Aminoasit Metabolizması Bozuklukları

Burgard P, Lachmann RH, Walter J. Hyperphenylalaninaemia. In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 6th ed. Berlin Heidelberg: Springer-Verlag; 2016: 252–264.

Sousa C, Almeida MF, Sousa Barbosa C et al. The European Phenylketonuria Guidelines and the challenges on management practices in Portugal. J Pediatr Endocrinol Metab. 2019;32(6):623-629.

van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017;12(1):162

Cottrell D. Prevention and treatment of psychiatric disorders in children with chronic physical illness. Arch Dis Child 2015;100:303–304.

Wettstein S, Underhaug J, Perez B et al. Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria. Eur J Hum Genet 2015;23:302–309.

Vockley J, Andersson HC, Antshel KM et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med 2014;16:188–200.

Perez-Duenas B, Valls-Sole J, Fernandez-Alvarez E et al. Characterization of tremor in phenylketonuric patients. J Neurol 2005;252:1328–1334.

Rubin S, Piffer AL, Rougier MB et al. Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by diet. JIMD Rep 2013;10:83–85.

Ahring K, Belanger-Quintana A, Dokoupil K et al. Dietary management practices in phenylketonuria across European centres. Clin Nutr 2009;28:231–236.

Van Spronsen FJ, van Wegberg AMJ, Ahring K et al. Key European Guidelines for the Diagnosis and Management of Patients with Phenylketonuria. Lancet Endocrinology & Diabetes 2017;5(9):743-756.

Groselj U, Murko S, Zerjav Tansek M et al. Comparison of tandem mass spectrometry and amino acid analyzer for phenylalanine and tyrosine monitoring–implications for clinical management of patients with hyperphenylalaninemia. Clin Biochem. 2015; 48(1–2):14–18.

Mastrangelo M, Chiarotti F, Berillo L et al. The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study. Mol Genet Metab 2015;116:171–177.

Peng H, Peck D, White DA, Christ SE. Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria. J Inherit Metab Dis 2014;37:237–243.

White DA, Antenor-Dorsey JA, Grange DK et al. White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria. Mol Genet Metab. 2013;110(3):213–7.

Cleary MA, Walter JH, Wraith JE, White F, Tyler K, Jenkins JP. Magnetic resonance imaging in phenylketonuria: reversal of cerebral white matter change. J Pediatr. 1995;127(2):251–255.

van Calcar SC, Ney DM. Food products made with glycomacropeptide, a low-phenylalanine whey protein, provide a new alternative to amino acid-based medical foods for nutrition management of phenylketonuria. J Acad Nutr Diet 2012;112:1201–1210.

Walter JH, White FJ, Hall SK et al. How practical are recommendations for dietary control in phenylketonuria? Lancet 2002;360:55-57.

Poustie VJ, Wildgoose J. Dietary interventions for phenylketonuria. Cochrane Database Syst Rev 2010;CD001304

Trefz F, Maillot F, Motzfeldt K, Schwarz M. Adult phenylketonuria outcome and management. Mol Genet Metab. 2011;104:26-30.

Sirtori LR, Dutra-Filho CS, Fitarelli D et al. Oxidative stress in patients with phenylketonuria. Biochim Biophys Acta. 2005;1740(1):68–73.

Demirdas S, Coakley KE, Bisschop PH et al. Bone health in phenylketonuria: a systematic review and meta-analysis. Orphanet J Rare Dis 2015;10:17.

Gokmen H, Ozel KA, Bélanger-Quintana A. Overweight and obesity in PKU: the results from 8 centres in Europe and Turkey. Mol Genet Metab Rep. 2014;1:483–486.

Robertson LV, McStravick N, Ripley S et al. Body mass index in adult patients with diet-treated phenylketonuria. J Hum Nutr Diet. 2013;26(1):1–6.

Lundstedt G, Johansson A, Melin L, Alm J. Adjustment and intelligence among children with phenylketonuria in Sweden. Acta Paediatr 2001;90:1147–1152.

Fonnesbeck CJ, McPheeters ML, Krishnaswami S, Lindegren ML, Reimschisel T. Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis. J Inherit Metab Dis 2013;36:757–766.

Sanford M, Keating GM. Spotlight on sapropterin in primary hyperphenylalaninemia. Bio Drugs 2009;23:201–202.

Gersting SW, Lagler FB, Eichinger A et al. Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo. Hum Mol Genet 2010;19:2039–2049.

Staudigl M, Gersting SW, Danecka MK et al. The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. Hum Mol Genet 2011;20:2628–2641.

Lindner M, Gramer G, Garbade SF, Burgard P. Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control. J Inherit Metab Dis 2009;32:514–522.

Longo N, Arnold GL, Pridjian G et al. Long-term safety and efficacy of sapropterin: the PKUDOS registry experience. Mol Genet Metab 2015;114:557–563.

Grange DK, Hillman RE, Burton BK et al. Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry. Mol Genet Metab 2014;112:9–16

Thony B.Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle. J Inherit Metab Dis 2010;33:677–680.

Vajro P, Strisciuglio P, Houssin D et al. Correction of phenylketonuria after liver transplantation in a child with cirrhosis. N Engl J Med 1993;329:363

Harding CO, Gibson KM.Therapeutic liver repopulation for phenylketonuria. J Inherit Metab Dis 2010;33:681–687.

Blau N, Longo N. Alternative therapies to address the unmet medical needs of patients with phenylketonuria. Expert Opin Pharmacother 2015;16:791–800.

Sarkissian CN, Gamez A, Wang L et al. Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria. Proc Natl Acad Sci USA 2008;105:20894–20899.

Berger V, Larondelle Y, Trouet A, Schneider YJ. Transport mechanisms of the large neutral amino acid L-phenylalanine in the human intestinal epithelial caco-2 cell line. J Nutr 2000;130:2780–2788.

Schindeler S, Ghosh-Jerath S, Thompson S et al. The effects of large neutral amino acid supplements in PKU: an MRS and neuropsychological study. Mol Genet Metab 2007;91:48–54.

Matalon R, Michals-Matalon K, Bhatia G et al. Large neutral amino acids in the treatment of phenylketonuria (PKU). J Inherit Metab Dis 2006;29:732–738.

Fonnesbeck CJ, McPheeters ML, Krishnaswami S, Lindegren ML, Reimschisel T. Estimating the probability of IQ impairment from blood phenylalanine for phenylketonuria patients: a hierarchical meta-analysis. J Inherit Metab Dis. 2013;36(5):757–766.

Waisbren SE, Noel K, Fahrbach K et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab. 2007;92(1–2):63–70.

Moyle JJ, Fox AM, Arthur M, Bynevelt M, Burnett JR. Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. Neuropsychol Rev. 2007;17(2):91–101.

Gassio R, Fuste E, Lopez-Sala A, Artuch R, Vilaseca MA, Campistol J. School performance in early and continuously treated phenylketonuria. Pediatr Neurol. 2005;33(4):267–71.

ten Hoedt AE, de Sonneville LM, Francois B et al. High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double- blind, placebo-controlled, crossover trial. J Inherit Metab Dis. 2011;34(1):165–171.

Anjema K, van Rijn M, Verkerk PH, Burgerhof JG, Heiner-Fokkema MR, van Spronsen FJ. PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings. Mol Genet Metab. 2011;104(3): 231–234.

Diamond A, Prevor MB, Callender G, Druin DP. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Monogr Soc Res Child Dev. 1997;62(4):1–208.

Ye J, Yang Y, Yu W et al. Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study. J Inherit Metab Dis 2013;36:893–901.

Simaite D, Kofent J, Gong M et al. Recessive mutations in PCBD1 cause a new type of early-onset diabetes. Diabetes. 2014;63(10):3557–3564.

Ferre S, de Baaij JH, Ferreira P et al. Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol. 2014;25(3):574–586.

Opladen T, Hoffmann GF, Blau N. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis 2012;35:963–973.

Liu KM, Liu TT, Lee NC et al. Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency. Arch Neurol 2008;65:387–392.

Ponzone A, Guardamagna O, Spada M et al. Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test. Eur J Pediatr 1993;152:655–661.

Coughlin II CR, Hyland K, Randall R, Ficicioglu C. Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report. JIMD Reports 2013;10:53–56.

Hyland K. Abnormalities of biogenic amine metabolism. J Inherit Metab Dis 1993;16:676–690.

Schuler A, Kalmanchey R, Barsi P et al. Deprenyl in the treatment of patients with tetrahydrobiopterin deficiencies. J Inherit Metab Dis 2000;23:329–332.

Porta F, Mussa A, Concolino D, Spada M, Ponzone A. Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. Neurology 2009;73:633–637.

Porta F, Ponzone A, Spada M. Short prolactin profile for monitoring treatment in BH4 deficiency. Eur J Paediatr Neurol 2015;19:360–363.

Morton DH, Strauss KA, Robinson DL, et al. Diagnosis and treatment of maple syrup disease: a study of 36 patients. Pediatrics 2002; 109:999.

Schiff M, de Baulny HO, Dionisi-Vici C. Branched-chain Organic Acidurias /Acidaemias. In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 6th ed. Berlin Heidelberg: Springer-Verlag; 2016: 277-294.

Hassan SA, Gupta V. Maple Syrup Urine Disease. 2021 Feb 6. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan.

Blackburn PR, Gass JM, Vairo FPE et al. Maple syrup urine disease: mechanisms and management. Appl Clin Genet 2017;10:57-66.

Carecchio M, Schneider SA, Chan H et al. Movement disorders in adult surviving patients with maple syrup urine disease. Mov Disord. 2011;26:1324–1328.

Strauss KA, Carson VJ, Soltys K et al. Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): treatment, biomarkers, and outcomes. Mol Genet Metab. 2020;129:193–206.

Fariello G, Dionisi-Vici C, Orazi C et al. Cranial ultrasonography in maple syrup urine disease. Am J Neuroradiol 1996;17:311–315.

Morton DH, Strauss KA, Robinson DL et al. Diagnosis and treatment of maple syrup urine disease: a study of 36 patients. Pediatrics 2002;109:999–1008.

Schoenberger S, Schweiger B, Schwahn B et al. Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab 2004;82:69–75.

Kleopa KA, Raizen DM, Friedrich CA, Brown MJ, Bird SJ. Acute axonal neuropathy in maple syrup urine disease. Muscle Nerve 2001;24:284–287.

Quental S, Vilarinho L, Martins E, et al. Incidence of maple syrup urine disease in Portugal. Mol Genet Metab 2010; 100:385.

Ali EZ, Ngu LH. Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population. Mol Genet Metab Rep. 2018;17:22-30.

Brosnan JT, Brosnan ME. Branched-chain amino acids: enzyme and substrate regulation. J Nutr 2006; 136:207.

Imtiaz F, Al-Mostafa A, Allam R et al. Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease. Mol Genet Metab Rep. 2017;11:17–23.

Maple Syrup Urine Disease. Strauss KA, Puffenberger EG, Carson VJ.2006 Jan 30 [updated 2020 Apr 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.

Puliyanda DP, Harmon WE, Peterschmitt MJ, Irons M, Somers MJ. Utility of hemodialysis in maple syrup urine disease. Pediatr Nephrol 2002;17:239–242.

Strauss KA, Wardley B, Robinson D et al. Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab 2010;99:333–345.

Frazier DM, Allgeier C, Homer C, Marriage BJ et al. Nutrition management guideline for maple syrup urine disease: an evidence- and consensus-based approach.Mol Genet Metab. 2014;112(3):210-217.

Puzenat E, Durbise E, Fromentin C, Humbert P, Aubin F. Iatrogenic acrodermatitis enteropathica-like syndrome in leucinosis. Ann Dermatol Venereol. 2004;131:801–804.

Hidayat S, Yoshino K, Tokunaga C, Hara K, Matsuo M, Yonezawa K. Inhibition of amino acid-mTOR signaling by a leucine derivative induces G1 arrest in Jurkat cells. Biochem Biophys Res Commun. 2003;301:417–423.

Servais A, Arnoux JB, Lamy C et al. Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture. J Inherit Metab Dis 2013;36:939–944.

Strauss KA, Mazariegos GV, Sindhi R et al. Elective liver transplantation for the treatment of classical maple syrup urine disease. Am J Tran splant 2006;6:557–564.

Khanna A, Hart M, Nyhan WL et al. Domino liver transplantation in maple syrup urine disease. Liver Trans plant 2006;12:876–882.

Mazariegos GV, Morton DH, Sindhi R et al. Liver transplantation for classical maple syrup urine disease: long-term follow-up in 37 patients and comparative United Network for Organ Sharing experience. J Pediatr 2012;160:116–121.

Hilliges C, Awiszus D, Wendel U. Intellectual performance of children with maple urine disease. Eur J Pediatr 1993;152:144–147.

Strauss KA, Wardley B, Robinson D et al. Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab 2010;99:333–345.

Hoffmann B, Helbling C, Schadewaldt P, Wendel U. Impact of longitudinal plasma leucine levels in the intellectual outcome in patients with classic MSUD. Pediatr Res 2006;59:17–20.

Chakrapani A, Gissen P, McKiernan P. Disorders of Tyrosine Metabolism In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 6th ed. Berlin Heidelberg: Springer-Verlag; 2016: 266–275.

Gokay S, Soylu Ustkoyuncu P, Kardas, F, Kendirci M. The outcome of seven patients with hereditary tyrosinemia type 1. JPEM 2016;29(10):1151-1157.

Aktuglu-Zeybek C, Kiykim E, Cansever MS. Hereditary Tyrosinemia Type 1 in Turkey.Adv Exp Med Biol. 2017;959:157-172.

Santra S, Preece MA, Hulton SA, McKiernan PJ. Renal tubular function in children with tyrosinaemia type I treated with nitisinone. J Inherit Metab Dis 2008;31:399–402.

van Ginkel WG, Jahja R, Huijbregts SCJ, van Spronsen FJ. Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients. Adv Exp Med Biol. 2017;959:111-122.

Arora N, Stumper O, Wright J et al. Cardiomyopathy in tyrosinaemia type I is common but usually benign. J Inherit Metab Dis 2006;29:54–57.

Zeybek C, Kiykim E, Soyucen E et al. Hereditary tyrosinemia type 1 in Turkey: twenty year single-center experience. Pediatr Int. 2015;57(2):281-289.

El-Karaksy H, Fahmy M, El-Raziky M et al. Hereditary tyrosinemia type 1 from a single center in Egypt: clinical study of 22 cases. World J Pediatr 2011;7:224–231.

Angileri F, Bergeron A, Morrow G et al. Geographical and ethnic distribution of mutations of the fumarylacetoacetate hydrolase gene in hereditary tyrosinemia type 1. JIMD Rep 2015;19: 43–58.

Tyrosinemia Type I. Sniderman King L, Trahms C, Scott CR.2006 Jul 24 [updated 2017 May 25]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020

Jorquera R, Tanguay RM. The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion. Biochem Bio phys Res Commun 1997;232:42–48.

Bliksrud YT, Ellingsen A, Bjørås M. Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I. J Inherit Metab Dis 2013;36:773–778.

Tanguay RM, Jorquera R, Poudrier J, St Louis M.Tyrosine and its catabolites: from disease to cancer. Acta Biochim Pol 1996;43:209–216.

Endo F, Sun MS. Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells. J Inherit Metab Dis. 2002;25:227–34.

Roth KS, Carter BE, Higgins ES. Succinylacetone effects on renal tubular phosphate metabolism: a model for experimental renal Fanconi syndrome. Proc Soc Exp Biol Med 1991;196:428–431.

Giger U, Meyer UA. Effect of succinylacetone on heme and cytochrome P450 synthesis in hepatocyte culture. FEBS Lett 1983;153:335–338.

Stenson PD, Mort M, Ball EV et al. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 2014;133:1–9.

De Jesús VR, Adam BW, Mandel D, Cuthbert CD, Matern D.Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs. Mol Genet Metab 2014;113:67–75.

Stinton C, Geppert J, Freeman K et al. Newborn screening for Tyrosinemia type 1 using succinylacetone-a systematic review of test accuracy. Orphanet J Rare Dis. 2017;12(1):48.

Cassiman D, Zeevaert R, Holme E, Kvittingen EA, Jaeken J.A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report. Orphanet J Rare Dis 2009;4:28

Couce ML, Dalmau J, del Toro M, Pintos-Morell G, Aldámiz-Echevarría L. Spanish Working Group on Tyrosinemia type 1. Tyrosinemia type 1 in Spain: Mutational analysis, treatment and long-term outcome. Pediatr. Int. 2011; 53: 985–9.

Hall MG, Wilks MF, Provan WM et al. Pharmacokinetics and pharmacodynamics of NTBC (2-(2-nitro-4-fluoromethylbenzoyl)-1,3-cyclohexanedione) and mesotrione, inhibitors of 4-hydroxyphenylpyruvate dioxygenase (HPPD) following a single dose to healthy male volunteers. Br J Clin Pharmacol 2001;52:169–177.

Larochelle J, Alvarez F, Bussières JF et al. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. Mol Genet Metab 2014;107:49–54.

Mayorandan S, Meyer U, Gokcay G et al. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet J Rare Dis 2014;9:107

de Laet C, Dionisi-Vici C, Leonard JV et al. Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis 2013;8:8

Sundberg J, Wibrand F, Lund AM, Christensen M.J Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1. Chromatogr B Analyt Technol Biomed Life Sci. 2018;1072:259-266.

Alvarez F, Mitchell GA Tyrosinemia and Liver Transplantation: Experience at CHU Sainte-Justine. Adv Exp Med Biol. 2017;959:67-73.

Rootwelt H, Brodtkorb E, Kvittingen EA.Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I. Am J Hum Genet 1994;55:1122–1127.

De Laet C, Terrones MV, Jaeken J et al. Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1. Dev Med Child Neurol 2011;53:962–964.

Bendadi F, de Koning TJ, Visser G et al. Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone. J Pediatr 2014;164:398–401.

Rabinowitz LG, Williams LR, Anderson CE et al. Painful keratoderma and photophobia: hallmarks of tyrosinemia type II. J Pediatr 1995;126:266–269.

Soares DC, Stroparo MN, Lian YC et al. Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner Hanhart syndrome. J Inherit Metab Dis. 2017;40(3):461

Culic V, Betz RC, Refke M, Fumic K, Pavelic J.Tyrosinemia type II (Richner-Hanhart syndrome): a new mutation in the TAT gene. Eur J Med Genet. 2011;54(3):205-208

Gokay S, Kendirci M, Ustkoyuncu PS et al. Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation. Pediatr Int. 2016;58(10):1069-1072.

Bohnert A, Anton-Lamprecht I. Richner-Hanhart syndrome: ultrastructural abnormalities of epidermal keratinization indicating a causal relationship to high intracellular tyrosine levels. J Invest Dermatol 1982;72:68–74.

Peña-Quintana L, Scherer G, Curbelo-Estévez ML et al Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. Clin Genet. 2017;92(3):306-317.

Meissner T, Betz RC, Pasternack SM et al. Richner-Hanhart syndrome detected by expanded newborn screening. Pediatr Dermatol 2008;25:378

Bouyacoub Y, Zribi H, Azzouz H et al. Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome. Gene 2013; 529: 45–49.

Barr DG, Kirk JM, Laing SC. Outcome in tyrosinaemia type II. Arch Dis Child 1991;66:1249–1250.

Heylen E, Scherer G, Vincent MF, Marie S, Fischer J, Nassogne MC. Tyrosinemia Type III detected via neonatal screening: management and outcome. Mol Genet Metab. 2012;107(3):605-7

Najafi R, Mostofizadeh N, Hashemipour M. A Case of Tyrosinemia Type III with Status Epilepticus and Mental Retardation. Adv Biomed Res. 2018;7:7

Szymanska E, Sredzinska M, Ciara E et al. Tyrosinemia type III in an asymptomatic girl. Mol Genet Metab Rep. 2015;5:48-50.

Barroso F, Correia J, Bandeira A et al. Tyrosinemia Type III: A Case Report of Siblings and Literature Review. Rev Paul Pediatr. 2020;38:e2018158.

Rüetschi U, Cerone R, Pérez CC et al. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. Hum Genet 2000;106:654–662.

Häberle J, Boddaert N, Burlina A et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 2012;7:32.

Summar ML, Koelker S, Freedenberg D et al. The incidence of urea cycle disorders. Mol Genet Metab 2013;110:179–180.

Summar ML, Koelker S, Freedenberg D et al. The incidence of urea cycle disorders. European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD) Mol Genet Metab. 2013;110(1-2):179.

Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K. Urea cycle disorders-update. J Hum Genet. 2019;64(9):833-847.

Häberle J, Rubio V. Disorders of the Urea Cycle and Related Enzymes In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 6th ed. Berlin Heidelberg: Springer-Verlag; 2016: 295–308

Häberle J, Burlina A, Chakrapani A et al. Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision. J Inherit Metab Dis. 2019;42(6):1192-1230.

Nassogne MC, Heron B, Touati G, Rabier D, Saudubray JM. Urea cycle defects: management and outcome. J Inherit Metab Dis. 2005;28(3):407-414.

Alonso E, Rubio V.Orotic aciduria due to arginine deprivation: changes in the levels of carbamoyl phosphate and of other urea cycle intermediates in mouse liver. J Nutr 1989;119:1188–1195.

Sancho-Vaello E, Marco-Marín C, Gougeard N et al. Understanding N-acetyl-L-glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. Hum Mutat 2016;37:679–694.

Häberle J, Shchelochkov OA, Wang J et al. Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Hum Mutat 2011;32:579–589.

Summar ML, Mew NA. Inborn Errors of Metabolism with Hyperammonemia:Urea Cycle Defects and Related Disorders. Pediatr Clin North Am. 2018;65(2):231-246.

Albrecht J, Norenberg MD. Glutamine: a Trojan horse in ammonia neurotoxicity. Hepatology 2006;44:788–794.

Rangroo Thrane V, Thrane AS, Wang F et al. Ammonia triggers neuronal disinhibition and seizures by impairing astrocyte potassium buffering. Nat Med 2013;19:1643–1648.

Ozturk K, McKinney AM, Nascene D. Urea Cycle Disorders: A Neuroimaging Pattern Approach Using Diffusion and FLAIR MRI. J Neuroimaging. 2021;31(1):144-150.

Pacheco-Colon I, Fricke S, VanMeter J, Gropman AL. Advances in urea cycle neuroimaging: Proceedings from the 4th International Symposium on urea cycle disorders, Barcelona, Spain, September 2013. Mol Genet Metab 2014;113:118–126.

Quental R, Azevedo L, Rubio V, Diogo L, Amorim A. Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene. Clin Genet 2009;75:457–464.

Batshaw ML, MacArthur RB, Tuchman M.Alternative pathway therapy for urea cycle disorders: twenty years later. J Pediatr 2001;138:46–54.

Brusilow SW. Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis. J Clin Invest 1984;74:2144–2148.

Vergano SA, Crossette JM, Cusick FC et al. Improving surveillance for hyperammonemia in the newborn. Mol Genet Metab 2013;110:102–105.

Adam S, Almeida MF, Assoun M et al. Dietary management of urea cycle disorders: European pra ctice. Mol Genet Metab 2013;110:439–445.

Batshaw ML, Tuchman M, Summar M, Seminara J.Members of the Urea Cycle Disorders C. A longitudinal study of urea cycle diso rders. Mol Genet Metab 2014;113:127–130.

Martin-Hernandez E, Aldamiz-Echevarria L, Castejon-Ponce E et al. Urea cycle disorders in Spain: an observational, crosssectional and multicentric study of 104 cases. Orphanet J Rare Dis 2014;9:187

Scholl-Bürgi S, Sigl SB, Häberle J et al. Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. J Inherit Metab Dis 2008;2:323–328.

Jorda A, Rubio V, Portoles M, Vilas J, Garcia-Pino J.A new case of arginase deficiency in a Spanish male. J Inherit Metab Dis 1986;9:393–397.

Gomes Martins E, Santos Silva E, Vilarinho S, Saudubray JM, Vilarinho L. Neonatal cholestasis: an uncommon presentation of hyperargininemia. J Inherit Metab Dis 2010;33(3):503–506

Erez A. Argininosuccinic aciduria: from a monogenic to a complex disorder. Genet Med 2013;15:251–257.

Faghfoury H, Baruteau J, de Baulny HO, Häberle J, Schulze A.Transient fulminant liver failure as an initial presentation in citrullinemia type I. Mol Genet Metab 2011;102:413–417.

Nagamani SC, Erez A, Lee B.Argininosuccinate lyase deficiency. Genet Med 2012;14:501–507.

Engel K, Höhne W, Häberle J. Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. Hum Mutat 2009;30:300–307.

Balmer C, Pandey AV, Rüfenacht V et al. Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Hum Mutat 2014;35:27–35.

Häberle J, Pauli S, Schmidt E et al. Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1). Mol Genet Metab 2003;80:302–306.

Ficicioglu C, Mandell R, Shih VE. Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Mol Genet Metab 2009;98:273–277.

Silva ES, Cardoso ML, Vilarinho L et al. Liver transplantation prevents progressive neurological impairment in argininemia. JIMD Rep 2013;11:25–30.

Iijima M, Jalil A, Begum L et al. Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin. Adv Enzyme Regul 2001;41:325–342.

Ohura T, Kobayashi K, Tazawa Y et al. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICC D). J Inherit Metab Dis 2007;30:139–144.

Vitoria I, Dalmau J, Ribes C et al. Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy. Mol Genet Metab 2013;110:181–183.

Saheki T, Kobayashi K.Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatit is (NICCD). J Hum Genet 2002;47:333–341.

Zhang ZH, Lin WX, Deng M, Zhao XJ, Song YZ. Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency. Gene 2012;511:227–234.

Dimmock D, Maranda B, Dionisi-Vici C et al. Citrin deficiency, a perplexing global disorder. Mol Genet Metab 2009;96:44–49.

Saheki T, Inoue K, Tushima A, Mutoh K, Kobayashi K. Citrin deficiency and current treatment concepts. Mol Genet Metab 2010;1:59–64.

Diez-Fernandez C, Rüfenacht V, Santra S et al. Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early onset life-threatening metabolic crisis. Genet Med 2016;18(10):991-1000.

van Karnebeek CD, Sly WS, Ross CJ et al. Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. Am J Hum Genet 2014;94:453–461.

van Karnebeek C, Häberle J. Carbonic Anhydrase VA Deficiency. In: Pagon RA, Adam MP, Ardinger HH et al. (eds) GeneReviews. Seattle, Wa shington, University of Washington.2015

Chien YH, Abdenur JE, Baronio F et al. Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet J Rare Dis 2015;10:99

Baric I, Staufner C, Augoustides-Savvopoulou P et al. Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders. J Inherit Metab Dis 2017;40(1):5-20.

Kido J, Sawada T, Momosaki K et al. Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract. Brain Dev. 2019;41(4):382-388.

Nasbahat M, Al- Khenaizan S, Alfadhel M. Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations. Ther Clin Risk Manag 2018;14:225-229.

Kožich V, Morris AAM, Blom HJ. Disorders of Sulfur Amino Acid Metabolism. In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 6th ed. Berlin Heidelberg: Springer-Verlag; 2016: 357–362.

Baric I, Fumic K, Glenn B et al. S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci USA 2004;101:4234–4239.

Honzik T, Magner M, Krijt J et al. Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency. Mol Genet Metab 2012;107:611–613.

Strauss KA, Ferreira C, Bottiglieri T et al. Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency. Mol Genet Metab 2015;116:44–52.

Bjursell MK, Blom HJ, Cayuela JA et al. Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet 2011;89:507–515.

Staufner C, Lindner M, Dionisi-Vici C et al. Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. J I nherit Metab Dis 2016;39:273–283.

Mudd SH, Skovby F, Levy HL et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet 1985;37:1–31.

Cruysberg JR, Boers GH, Trijbels JM, Deutman AF. Delay in diagnosis of homocystinuria: retrospective study of consecutive patients. BMJ 1996;313:1037–1040.

Sacharow SJ, Picker JD, Levy HL. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency. 2004 Jan 15 [Updated 2017 May 18]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews ® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021

Skovby F, Gaustadnes M, Mudd SHA revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. Mol Genet Metab 2010;99:1–3.

Morris AAM, Kožich V, Santra S et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis 2017; 40:49–74.

Alcaide P, Krijt J, Ruiz-Sala P et al. Enzymatic diagnosis of homocystinuria by determination of cystathionine-ss-synthase activity in plasma using LC-MS/MS. Clin Chim Acta 2015;438:261–265.

Refsum H, Smith AD, Ueland PM et al. Facts and recommendations about total homocysteine determinations: an expert opinion. Clin Chem 2004;50:3–32.

Stabler SP, Korson M, Jethva R et al. Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. JIMD Rep 2013;11:149–163.

Huemer M, Kozich V, Rinaldo P et al. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. J Inherit Metab Dis 2015;38(6):1007-1019.

Ludolph AC, Masur H, Oberwittler C et al. Sensory neuropathy and vitamin B6 treatment in homocystinuria. Eur J Pediatr 1993;152:271

Bublil EM, Majtan T. Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies. Biochimie. 2020;173:48-56.

Matthews A, Johnson TN, Rostami-Hodjegan A et al. An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria. Br J Clin Pharmacol 2002;54:140–146.

Kopecka J, Krijt J, Rakova K, Kozich V. Restoring assembly and activity of cystathionine beta-synthase mutants by ligands and chemical chaperones. J Inherit Metab Dis 2011;34:39–48.

Arican P, Gencpinar P, Kirbiyik O et al. The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations. Pediatr Neurol. 2019;99:55-59.

Bayram E, Topcu Y, Karakaya P et al. Molybdenum cofactor deficiency: review of 12 cases (MoCD and review). Eur J Paediatr Neurol. 2013;17(1):1-6.

Durmaz MS, Özbakır B. Molybdenum cofactor deficiency: Neuroimaging findings Radiol Case Rep. 2018;13(3):592-595.

Mize C, Johnson JL, Rajagopalan KV. Defective molybdopterin biosynthesis: clinical heterogeneity associated with molybdenum cofactor deficiency. J Inherit Metab Dis 1995;18: 283–290.

Reiss J, Hahnewald R.Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2. Hum Mutat 2011;32:10–18.

Teksam O, Yurdakok M, Coskun T. Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage. J Child Neurol 2005;20:155e7.

Schwahn BC, Van Spronsen FJ, Belaidi AA et al. Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study. Lancet 2015;386:1955–1963.

Bindu PS, Nagappa M, Bharath RD, et al. Isolated Sulfite Oxidase Deficiency.2017 Sep 21. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

Bosley TM, Alorainy IA, Oystreck DT et al. Neurologic injury in isolated sulfite oxidase deficiency. Can J Neurol Sci. 2014;41:42–8.

Salih MA, Bosley TM, Alorainy IA, et al. Preimplantation genetic diagnosis in isolated sulfite oxidase deficiency. Can J Neurol Sci. 2013;40:109–112.

Bindu PS, Christopher R, Mahadevan A, Bharath RD. Clinical and imaging observations in isolated sulfite oxidase deficiency. J Child Neurol. 2011;26:1036–40.

Hoffmann C, Ben-Zeev B, Anikster Y et al. Magnetic resonance imaging and magnetic resonance spectroscopy in isolated sulfite oxidase deficiency. J Child Neurol. 2007;22:1214–21

Di Meo I, Lamperti C, Tiranti V. Ethylmalonic Encephalopathy. 2017 Sep 21. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews ® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

Grosso S, Mostardini R, Farnetani MA et al. Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. J Neurol. 2002;249:1446–1450.

Tiranti V, Viscomi C, Hildebrandt T et al. Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 2009;15:200–205.

Tiranti V, Briem E, Lamantea E et al. ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet 2006;43:340–346.

Viscomi C, Burlina AB, Dweikat I et al. Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. Nat Med 2010;16:869–871.

Dionisi-Vici C, Diodato D, Torre G et al. Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease. Brain 2016;139:1045–1051.

Villani GR, Gallo G, Scolamiero E et al. "Classical organic acidurias": diagnosis and pathogenesis. Clin Exp Med 2017; 17:305.

Akin EÖ, Pekcici BB, Eminoglu FT.International classification of functioning, disability and health framework (ICF) based adaptive functioning outcomes of children with organic acidemias from a middle-income country. Brain Dev. 2021;43(3):389-395.

Bakshi NA, Al-Anzi T, Mohamed SY et al. Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia. Am J Med Genet A 2018; 176:687.

Baumgartner MR, Hörster F, Dionisi-Vici C et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis 2014; 9:130.

Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypicheterogeneity. Am J Med Genet C Semin Med Genet. 2006;142C(2):95–103.

Schiff M, de Baulny HO, Dionisi-Vici C. Branched-chain Organic Acidurias /Acidaemias. In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 6th ed. Berlin Heidelberg: Springer-Verlag; 2016: 277-294.

Alberola TM, Bautista-Llácer R, Vendrell X et al. Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia. J Assist Reprod Genet 2011; 28:211.

Kolker S, Burgard P, Sauer SW, Okun JG. Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation. J Inherit Metab Dis. 2013;36:635–44.

Feld LG, Neuspiel DR, Foster BA et al. Clinical Practice Guideline: Maintenance Intravenous Fluids in Children. Pediatrics 2018; 142.

Rajpoot DK, Gargus JJ. Acute hemodialysis for hyperammonemia in small neonates. Pediatr Nephrol 2004; 19:390.

Levrat V, Forest I, Fouilhoux A et al. Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? Orphanet J Rare Dis 2008; 3:2.

Häberle J, Boddaert N, Burlina A et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis 2012; 7:32.

Ah Mew N, McCarter R, Daikhin Y et al. N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. Pediatrics 2010; 126:e208.

Grünert SC, Müllerleile S, de Silva L et al. Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis 2012; 35:41.

Manoli I, Sloan JL, Venditti CP. Isolated Methylmalonic Acidemia. 2005 Aug 16 [Updated 2016 Dec 1]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

Zsengelle´r ZK, Aljinovic N, Teot LA et al. Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. Pediatr Nephrol. 2014;29:2139–46.

Kendirci M, Kardas F, Üstkoyuncu Soylu P, Gökay S. "Organik Asidemiler" Yurdakök Pediatri, Ankara: Güneş Tıp Kitabevleri, 2017, ss.1667-1685.

Shchelochkov OA, Carrillo N, Venditti C. Propionic Acidemia. 2012 May 17 [Updated 2016 Oct 6]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

Ugarte M, Pérez-Cerdá C, Rodríguez-Pombo P et al. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. Hum Mutat 1999; 14:275.

Kraus JP, Spector E, Venezia S et al. Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis 2012; 35:51.

Mardach R, Verity MA, Cederbaum SD. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol Genet Metab 2005; 85:286.

Romano S, Valayannopoulos V, Touati G, et al. Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr 2010; 156:128.

Pena L, Burton BK. Survey of health status and complications among propionic acidemia patients. Am J Med Genet A 2012; 158A:1641.

Tan NS, Bajaj RR, Morel C, Singh SM. Metabolic cardiomyopathy from propionic acidemia precipitating cardiac arrest in a 25-year-old man. CMAJ 2018; 190:E883.

Bultron G, Seashore MR, Pashankar DS, Husain SZ. Recurrent acute pancreatitis associated with propionic acidemia. J Pediatr Gastroenterol Nutr 2008; 47:370.

Ianchulev T, Kolin T, Moseley K, Sadun A. Optic nerve atrophy in propionic acidemia. Ophthalmology 2003; 110:1850.

Baumgartner D, Scholl-Bürgi S, Sass JO et al. Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr 2007; 150:192.

Jurecki E, Ueda K, Frazier D et al. Nutrition management guideline for propionic acidemia: An evidence- and consensus-based approach. Mol Genet Metab 2019; 126:341.

Chapman KA, Gropman A, MacLeod E et al. Acute management of propionic acidemia. Mol Genet Metab 2012; 105:16.

Hillman RE, Keating JP, Williams JC. Biotin-responsive propionic acidemia presenting as the rumination syndrome. J Pediatr 1978; 92:439.

Sutton VR, Chapman KA, Gropman AL et al. Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab 2012; 105:26.

Vara R, Turner C, Mundy H et al. Liver transplantation for propionic acidemia in children. Liver Transpl 2011; 17:661.

Saudubray JM, Touati G, Delonlay P et al. Liver transplantation in propionic acidaemia. Eur J Pediatr 1999; 158 Suppl 2:S65.

Kasahara M, Sakamoto S, Kanazawa H et al. Living-donor liver transplantation for propionic acidemia. Pediatr Transplant 2012; 16:230.

Squires RH, Ng V, Romero R et al. Evaluation of the pediatric patient for liver transplantation: 2014 practice guideline by the American Association for the Study of Liver Diseases, American Society of Transplantation and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. Hepatology 2014; 60:362.

Rela M, Battula N, Madanur M et al. Auxiliary liver transplantation for propionic acidemia: a 10-year follow-up. Am J Transplant 2007; 7:2200.

Ozand PT. Hypoglycemia in association with various organic and amino acid disorders. Semin Perinatol 2000; 24:172.

Wu F, Fan SJ, Zhou XH. Neonatal isovaleric acidemia in China: A case report and review of literature. World J Clin Cases. 2021;9(2):436-444

Mohsen AW, Anderson BD, Volchenboum SL et al. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Biochemistry 1998; 37:10325.

Ensenauer R, Vockley J, Willard JM et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet 2004; 75:1136.

Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 2006; 142C:95.

Sarah C Grünert, Martin Stucki, Raphael J Morscher et al. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet Journal of Rare Diseases 2012, 7:31

Baumgartner MR, Almashanu S, Suormala T et al. The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. J Clin Invest 2001; 107:495.

Bannwart C, Wermuth B, Baumgartner R et al. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome. J Inherit Metab Dis 1992; 15:863.

Arnold GL, Salazar D, Neidich JA et al. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. Mol Genet Metab 2012; 106:439.

Niu DM, Chien YH, Chiang CC et al. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J Inherit Metab Dis 2010; 33:295.

Forsyth R, Vockley CW, Edick MJ et al. Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System. Mol Genet Metab 2016; 118:15.

Arnold GL, Koeberl DD, Matern D, et al. A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab 2008; 93:363.

Mercimek-Mahmutoglu S, Tucker T, Casey B. Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. Mol Genet Metab 2011; 104:410.

Dudipala SC, M P, B KC, Chenalla LK. Acute Encephalopathic Presentation of 3 Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene. Cureus. 2020;12(12):e11951.

Wortmann SB, Kremer BH, Graham A et al. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology 2010; 75:1079.

Kulik W, van Lenthe H, Stet FS et al. Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome. Clin Chem 2008; 54:371.

Clarke SL, Bowron A, Gonzalez IL et al. Barth syndrome.. Orphanet J Rare Dis. 2013;8:23.

Davey KM, Parboosingh JS, McLeod DR et al. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet 2006; 43:385.

Anikster Y, Kleta R, Shaag A, et al. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 2001; 69:1218.

Anikster Y. Costeff Syndrome. 2006 Jul 28 [Updated 2020 Apr 30]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

Saunders C, Smith L, Wibrand F et al. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet 2015; 96:258.

Gibson KM, Sherwood WG, Hoffman GF et al. Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr 1991; 118:885.

Koyata H, Hiraga K. The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias. Am J Hum Genet.1991;48:351-361.

Van Hove JLK, Hennermann JB, Coughlin II CR. Nonketotic Hyperglycinemia (Glycine Encephalopathy) and Lipoate Deficiency Disorders. In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 6th ed. Berlin Heidelberg: Springer-Verlag; 2016: 350-356.

Feng WX, Zhuo XW, Liu ZM et al. Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.Front Genet. 2021;12:605778.

Alghamdi M, Bashiri FA, Abdelhakim M et al. Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidasedeficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphateoxidase deficiency.Clin Genet. 2021;99(1):99-110.

Krawiec C, Goyal A. Nonketotic Hyperglycinemia. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan.

Genç Sel Ç, Kılıç M,Yüksel D et al. Nonketotic hyperglycinemia: Clinical range and outcome of a rare neurometabolic disease in a single-center. Brain Dev. 2018;40:865-875.

Shbarou RM, Boustany RM, Daher RT, Pakdel P, Noureddine A, Karam PE. Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review.Neuropediatrics. 2019;50:235-243.

Chiu CF, Lin JL,Lin JJ, Tseng MH, Lo FS,Chiang MC. Nonketotic Hyperglycinemia of Infants in Taiwan. Pediatr Neonatol. 2016;57:420-426.

Dulac O. Epileptic encephalopathy with suppression-bursts and nonketotic hyperglycinemia. Handb Clin Neurol. 2013;113:1785-1797.

Gabis L, Parton P, Roche P, Lenn N, Tudorica A, Huang W. In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia. J Neuroimaging. 2001;11:209–211.

Mohammad SA, Abdelkhalek HS. Nonketotic hyperglycinemia: spectrum of imaging findings with emphasis on diffusion-weighted imaging. 2017;59:1155-1163

Shin JH, Ahn SY, Shin JH et al. Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia.Korean J Pediatr. 2012;55:301-305.

Nonketotic Hyperglycinemia. Van Hove JLK, Coughlin CII, Swanson M, et al. 2002: 14 [Updated 2019 May 23]. In: Adam MP, Ardinger HH, Pagon RA, et al. editors. GeneReviews ® [Internet]. Seattle (WA): University of Washington, Seattle. pp. 1993-2020

Baker PR II, Friederich MW, Swanson MA et al. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GL RX5. Brain 2014;137:366–379

Mayr JA, Zimmermann FA, Fauth C et al. Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet 2011;89:792–797

Mayr JA, Feichtinger RG, Tort F et al. Lipoic acid biosynthesis defects. J Inherit Metab Dis 2014;37:553–56

Tort F, Ferrer-Cortès X, Thió M et al. Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. Hum Mol Genet 2014;23:1907–1915

Soreze Y, Boutron A, Habarou F et al. Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. Orphanet Rare Dis J 2013;17:192

Cameron JM, Janer A, Levandovskiy V et al. Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes, Am J Hum Genet 2011;89:486–495

Navarro-Sastre A, Tort F, Stehling O et al. A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet 2011;89:656–667

Ahting U, Mayr JA, Vanlander AV et al. Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Front Genet 2015;6:123

Al-Hassnan ZN, Al-Dosary M, Alfadhel M et al. ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet 2015;52:186–194.

Ajit Bolar N, Vanlander AV, Wilbrecht C et al. Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. Hum M ol Genet 2013;22:2590–2602.

Lossos A, Stümpfig C, Stevanin G et al. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. Neurology 2015;84:659–667.

Ichinohe A, Kure S, Mikawa S et al. Glycine cleavage system in neurogenic regions. Eur J Neurosci 2004;19:2365–2370.

Kanno J, Hutchin T, Kamada F et al. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. J Med Genet 2006;44:e69

Swanson MA, Coughlin Jr CR, Scharer GH et al. Biochemical and Molecular Predictors for Prognosis in Nonketotic Hyperglycinemia. Annals of Neurology 2015;78:606-618.

Jones CM, Smith M, Henderson MJ. Reference data for cerebrospinal fluid and the utility of amino acid measurement for the diagnosis of inborn errors of metabolism. Ann Clin Biochem. 2006;43:63-66

Aburahma S, Khassawneh M, Griebel M et al. Pitfalls in measuring cerebrospinal fluid glycine levels in infants with encephalopathy. J Child Neurol 2011;26:703–706.

Christodoulou J, Kure S, Hayasaka K, Clarke JT. Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts. J Pediatr. 1993;123(1):100-102.

Applegarth DA, Toone JR. Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab 2001; 74:139–146.

Van Hove JLK, Vande Kerckhove K, Hennermann JB et al. Benzoate treatment and the glycine index in nonketotic hyperglycinaemia. J Inherit Metab Dis 2005;28:651–663.

Wolff JA, Kulovich S, Yu AL et al. The effectiveness of benzoate in the management of seizures in nonketotic hyperglycinemia. Am J Dis Child 1986;140:596–602.

Van Hove JLK, Kishnani P, Muenzer J et al. Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia. Am J Med Genet 1995;59:444–453.

Zubarioglu T, Kiykim E, Cansever MS, Aktuglu Zeybek C, Yalcinkaya C. Neonatal nonketotic hyperglycinemia: diffusion-weighted magnetic resonance imaging and diagnostic clues. Acta Neurol Belg. 2016;116:671-673.

Bjoraker KJ, Swanson MA, Coughlin CR 2nd et al. Neurodevelopmental outcome and treatment efficacy of benzoate and dextromethorphan in siblings with attenuated nonketotic hyerglycinemia. J Pediatr 2016;170:234–239.

Tekgul H, Serdaroğlu G, Karapinar B et al. Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. J Child Neurol 2006;21:82–84.

Tsuyusaki Y, Shimbo H, Wada T et al. Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinem ia. Brain Dev 2012;34:72–75.

Cusmai R, Martinelli D, Moavero R et al. Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia, Eur J Paed iatr Neurol 2012;16:509–513.

Tsao C-Y. The efficacy of vagus nerve stimulation in intractable epilepsy associated with nonketotic hyperglycinemia in two children. J C hild Neurol 2010;25:375–378.

Ramirez N, Flynn JM, Csalduc F et al. Musculoskeletal manifestations of neonatal nonketotic hyperglycinemia. J Child Orthop 2012;6:199–203.

Hennermann JB, Berger JM, Grieben U, Scharer G, Van Hove JL. Prediction of long-term outcome in glycine encephalopathy: a clinical survey. J Inherit Metab Dis. 2012;35:253–261.

Hoffmann GF, Kölker S. Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 6th ed. Berlin Heidelberg: Springer-Verlag; 2016: 333–348.

Dancis J, Hutzler J, Ampola MG et al. The prognosis of hyperlysinemia: an interim report. Am J Hum Genet 1983;35:438–442.

Houten SM, Te Brinke H, Denis S et al. Genetic basis of hyperlysinemia. Orphanet J Rare Dis. 2013;8:57

Sacksteder KA, Biery BJ, Morell JC et al. İdentification of the α-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. Am J Hum Genet 2000;66:1736–1743.

Przyrembel H. Disorders of ornithine, lysine and tryptophan. In: Blau N, Duran Blaskovics M, Gibson KM (eds) Physician’s guide to the laboratory diagnosis of inherited metabolic disease. Chapman & Hall, London, 2002 pp 277–300.

Danhauser K, Sauer SW, Haack TB et al. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am J Hum Genet. 2012;91(6):1082-1087.

Xu WY, Gu MM, Sun LH et al. A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree. Am J Hum Genet 2012;91:1088–1094.

Glutaric Acidemia Type 1. Larson A, Goodman S.2019 Sep 19. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.

Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Type I glutaric aciduria, part 1: natural history of 77 patients. Am J Med Genet 2003;121C:38–52

Kölker S, Garbade SF, Greenberg CR et al. Natural history, outcome and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 2006;59:840–847.

Strauss KA, Morton DH. Type I glutaric aciduria, part 2: a model of acute striatal necrosis. Am J Med Genet C Semin Med Genet. 2003

Danhauser K, Sauer SW, Haack TB et al. DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am J Hum Genet 2012;91:1082–1087.

Hartley LM, Khwaja OS, Verity CM. Glutaric aciduria type 1 and nonaccidental head injury. Pediatrics 2001; 107:174.

Hoffmann GF, Trefz FK, Barth PG, et al. Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics 1991; 88:1194.

Gordon N. Glutaric aciduria types I and II. Brain Dev 2006; 28:136.

Bodamer O. Subdural hematomas and glutaric aciduria type I. Pediatrics 2001; 107:451.

Morris AA, Hoffmann GF, Naughten ER et al. Glutaric aciduria and suspected child abuse. Arch Dis Child 1999; 80:404.

Strauss KA, Morton DH. Type I glutaric aciduria, part 2: a model of acute striatal necrosis. Am J Med Genet C Semin Med Genet 2003; 121C:53.

Kölker S, Hoffmann GF, Schor DS et al. Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen. Neuropediatrics 2003; 34:253.

Funk CB, Prasad AN, Frosk P et al. Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain 2005; 128:711.

Hoffmann GF, Athanassopoulos S, Burlina AB et al. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996; 27:115.

Boy N, Mengler K, Thimm E, et al. Newborn screening: A disease-changing intervention for glutaric aciduria type 1. Ann Neurol 2018; 83:970.

Boy N, Mühlhausen C, Maier EM et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis. 2017b;40:75–101.

Herskovitz M, Goldsher D, Sela BA, Mandel H. Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I. Neurology. 2013;81:849–850.

Burlina AP, Danieli D, Malfa F et al. Glutaric aciduria type I and glioma: the first report in a young adult patient. J Inherit Metab Dis. 2012;35:S58

Vester ME, Visser G, Wijburg F, van Spronsen FJ, Williams M, van Rijn RR. Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients. Eur J Pediatr. 2016;175:1001–1006.

Sauer SW, Okun JG, Schwab MA et al. Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A. J Biol Chem 2005;280:2180

Strauss KA, Donelly P, Wintermark M.Cerebral haemodynamics in patients with glutaryl-coenzmye A dehydrogenase deficiency. Brain 2010;133:76–92.

Heringer J, Boy SPN, Ensenauer R et al. Use of guidelines improves the outcome in glutaric aciduria type I. Ann Neurol 2010;68:743–752.

Tsai FC, Lee HJ, Wang AG et al. Experiences during newborn screening for glutaric aciduria type 1: diagnosis, treatment, genotype, phenotype, and outcomes. J Chin Med Assoc. 2017;80:253–261.

Stenson PD, Mort M, Ball EV, Shaw K, Phillips AD, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014;133:1–9.

Lindner M, Kölker S, Schulze A et al. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inheri t Metab Dis 2004;27:851–859.

Kölker S, Christensen E, Leonard JV et al. Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inheri t Metab Dis 2011;34:677–694.

Kölker S, Garbade SF, Boy N et al. Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res 2007;62:357–363.

Strauss KA, Lazovic J, Wintermark M et al. Multimodal imaging of striatal degeneration in Amish patients with glutaryl-CoA dehydrogenase deficiency. Brain 2007;130:1905–1920.

Chen E, Nyhan WL, Jakobs C et al. L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death. J Inherit Metab Dis 1996;19:335–343.

Moroni I, D’Incerti L, Farina L et al. Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci 2000;21:103–108.

Moroni I, Bugiani L, D’Incerti C et al. L-2-Hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition? Neurology 2004;62:1882–1884.

Rzem R, Veiga-da-Cunha M, Noel G et al. A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci USA 20004;101:16849–16854.

Rzem R, Vincent MF, Schaftingen v E et al. L-2-Hydroxyglutaric aciduria, a defect of metabolite repair. J Inherit Metab Dis 2007;30:681–689.

Topcu M, Jobard F, Halliez S et al. L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localised on chromosome 14q22.1. Hum Mol Genet 2004;13:2803–2811.

Samuraki M, Komai M, Hasegawa Y et al. A successfully treated adult patient with L-2-hydroxyglutaric aciduria. Neurology 2008;70:1051–1052.

Knaap vd MS, Jakobs C, Hoffmann GF et al. D-2-Hydroxyglutaric aciduria. Biochemical marker or clinical disease entity? Ann Neurol 1999;45:111–119.

Pop A, Struys EA, Jansen EEW et al. D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants. Hum Mutat. 2019l;40(7):975-982.

Struys EA, Salomons GS, Achouri Y et al. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet 2005;76:358–360.

Kranendijk M, Struys EA, Schaftingen v E et al. IDH2 Mutations in patients with D-2-hydroxyglutaric aciduria. Science 2010;330:336

Kranendijk M, Struys EA, Gibson KM et al. Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mut 2010;31:279–283.

Muntau AC, Röschinger W, Merkenschlager A et al. Combined D-2 and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: A third biochemical variant of 2-hydroxyglutaric aciduria? Neuropediatrics 2000;31:137–140.

Matalon R, Michals K, Kaul R. Canavan disease: from spongy degeneration to molecular analysis. J Pediatr 1995;127:511–517.

Merrill ST, Nelson GR, Longo N, BonkowskyJL. Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literatüre. Orphanet J Rare Dis. 2016;11(1):169.

Canavan Disease. Matalon R, Delgado L, Michals-Matalon K. Canavan Disease. 1999 Sep 16 [Updated 2018 Sep 13]. In: Adam MP, Ardinger HH, Pagon RA, et al, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

Madhavarao CN, Arun P, Moffett JR et al. Defective N acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan’s disease. PNAS 2005;102:5221–5226.

Matalon R, Michals-Matalon K. Molecular basis of Canavan disease. Eur J Paediatr Neurol 1998;2:69–76.

Fares F, Badarneh K, Abosaleh M, Harari-Shaham A, Diukman R, David M. Carrier frequency of autosomalrecessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated? Prenat Diagn. 2008;28:236–41.

Howell VM, Proos AL, LaRue D et al. Carrier screening for Canavan disease in Australia. J Inherit Metab Dis 2004;27:289–290.

Madhavarao CN, Arun P, Anikster Y et al. Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model. J Inheri t Metab Dis 2009;32:640–650.

Leone P, Janson CG, Bilanuk L et al. Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. Ann Neurol 2000;48:27–38.

Sass JO, Mohr V, Olbrich H et al. Mutations of ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet 2006;78:401–409.

Bolthauser E, Schmitt B, Wevers RA et al. Follow-up of a child with hypoacetylaspartia. Neur opediatrics 2004;35:255–258.

Wiame E, Tyteca D, Pierrot N et al. Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia. Biochem J 2010;425:127–136.

Wibom R, Lasorsa FM, Töhönen V et al. AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med 2009;361:489–495.

Häberle J, Görg B, Rutsch F et al. Congenital glutamine deficiency with glutamine synthetase mutations. N Engl J Med 2005;353:1926–1933.

Häberle J, Görg B, Toutain et al. Inborn error of amino acid synthesis: human glutamine synthetase deficiency. J Inherit Metab Dis 2006;29:352–358.

Häberle J, Shahbeck N, Ibrahim K, Hoffmann GF, Ben-Omran T. Natural course of glutamine synthetase deficiency in a 3 year old patient. Mol Genet Metab 2011;103:89–91.

Eid T, Thomas MJ, Spencer DD et al. Loss of glutamine synthetase in the human epileptogenic hippocampus: possible mechanism for raised extracellular glutamate in mesial temporal lobe epilepsy. Lancet 2004;363: 28–37.

Hu L, Ibrahim K, Stucki et al. Secondary NAD deficiency in the inherited defect of glutamine synthetase. J Inherit Metab Dis 2015;38:1075–1083.

Jaeken J, Häberle J, Dulac O. Disorders of Glutamine, Serine and Asparagine Metabolism In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 6th ed. Berlin Heidelberg: Springer-Verlag; 2016: 357–362.

Häberle J, Shahbeck N, Ibrahim K et al. Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance. Orphanet J Rare Dis 2012;7:48

Van der Crabben SN, Verhoeven-Duif NM, Van Maldergem L et al. An update on serine deficiency disorders. J Inherit Metab Dis 2013;36:613–619.

Tatabaie L, Klomp LWJ, Rubio-Gozalbo ME et al. Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency. J Inherit Metab Dis 2011;34:181–184.

Méneret A, Wiame E, Marelli C et al. A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy. Arch Neurol 2012;69:908–911.

Moat SJ, Carling R, Nix B et al. Multicentre age related reference intervals for cerebrospinal fluid serine: Implications for the diagnosis and follow-up of serine biosynthesis disorders. Mol Genet Metab 2010;101:149–152.

de Koning TJ, Klomp LW, van Oppen AC et al. Prenatal and early postnatal treatment in 3-phosphoglycerate dehydrogenase deficiency. Lancet 2004;364:2221–2222.

Tabatabaie L, Klomp LW, Berger R, de Koning TJ. L-serine synthesis in the central nervous system: a review on serine deficiency disorders. Mol Genet Metab 2010;99:256–262.

Jaeken J, Detheux M, Fryns J-P et al. Phosphoserine phosphatase deficiency in a patient with Williams syndrome. J Med Genet 1997;34:594–596.

Damseh N, Simonin A, Jalas C et al. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. J Med Genet 2015;52:541–547.

Heimer G, Marek-Yagel D, Eyal D et al. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum. Clin Genet 2015;88:327–335

Srour M, Hamdan FF, Gan-Or Z et al. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly. Clin Genet 2015;88:e1–4

Palmer EE, Hayner J, Sachdev R et al. Asparagine synthetase deficiency causes reduced proliferation of cells under conditions of limited asparagine. Mol Genet Metab 2015;116:178–186.

Ruzzo EK, Capo-Chichi J-M, Ben-Zeev B et al. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron 2013;80:429–441.

Alfadhel M, Alrifai MT, Trujiliano D et al. Asparagine synthetase deficiency: new inborn errors of metabolism. JIMD Rep 2014;22:11–16.

Ben-Salem S, Gleeson JG, Al-Shamsi AM et al. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. Metab Brain Dis 2015;30:687–694.

1.Baumgartner MR, Valle D, Dionisi-Vici C. Disorders of Ornithine and Proline Metabolism. In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 6th ed. Berlin Heidelberg: Springer-Verlag; 2016: 321-331.

Valayannopoulos V, Boddaert N, Mention K et al. Secondary creatine deficiency in ornithine delta-aminotransferase deficiency. Mol Genet Metab 2009;97:109–113.

Cleary MA, Dorland L, de Koning TJ et al. Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation. J Inherit Metab Dis 2005;28:673–679.

Montioli R, Bellezza I, Desbats MA, Borri Voltattorni C, Salviati L, Cellini B. Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects. Biochim Biophys Acta Proteins Proteom. 2021;1869(1):140555.

Kaiser-Kupfer MI, Caruso RC, Valle D. Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children. Arch Ophthalmol 2002;120:146–153.

Santinelli R, Costagliola C, Tolone C et al. Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up. J Inherit Metab Dis 2004;27:187–196.

Heinänen K, Näntö-Salonen K, Komu M et al. Creatine corrects muscle 31P spectrum in gyrate atrophy with hyperornithinaemia. Eur J Clin Invest 1999;29:1060–1065.

Gallagher AC, Pike M, Standing S. HHH syndrome associated with callosal agenesis and disordered neuronal migration. Dev Med Child Neurol. 2001;43:430–431.

Salvi S, Santorelli FM, Bertini E, Boldrini R, Meli C, Donati A, et al. Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Neurology. 2001;57:911–914.

Martinelli D, Diodato D, Ponzi E et al. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Orphanet J Rare Dis 2015;10:29

11.Boenzi S, Pastore A, Martinelli D et al. Creatine metabolism in urea cycle defects. J Inherit Metab Dis. 2012;35:647–53.

Debray FG, Lambert M, Lemieux B et al. Phenotypic variability among patients with hyperornithinaemiahyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15. J Med Genet. 2008;45:759–764.

Tessa A, Fiermonte G, Dionisi-Vici C et al. Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. Hum Mutat 2009;30:741–748

Miyamoto T, Kanazawa N, Kato S et al. Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X. J Hum Genet 2001;46:260–262.

Sokoro AA, Lepage J, Antonishyn N et al. Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan. J Inherit Metab Dis 2010;33:275–281.

Shih VE Mandell R, Herzfeld A. Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria. Clin Chim Acta 1982;118:149–157.

Häberle J, Boddaert N, Burlina A et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J Rare Dis. 2012;7:32

Baumgartner MR, Rabier D, Nassogne MC et al. Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline. Eur J Pediatr 2005;164:31–36.

Wolthuis DF, van Asbeck E, Mohamed M et al. Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. Eur J Paediatr Neurol 2014;18:511–515.

Coutelier M, Goizet C, Durr A et al. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain 2015;138:2191–2205.

Skidmore DL, Chitayat D, Morgan T et al. Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS). Am J Med Genet A 1 2011;55A:1848–1856.

Fischer-Zirnsak B, Escande-Beillard N, Ganesh J et al. Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa. Am J Hum Genet 2015;97:483–492.

Panza E, Escamilla-Honrubia JM, Marco-Marín C et al. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. Brain 2015;139(Pt1):e3

Baumgartner MR, Hu C-A, Almashanu S et al. Hyperammonemia with reduced ornithine, citrulline, arginine and proline: A new inborn error caused by a mutation in the gene encoding Δ1-pyrroline-5-carboxylate synthase. Hum Molec Genet 2000;9:2853–2858.

Reversade B, Escande-Beillard N, Dimopoulou A et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet 2009;41:1016–1021.

Guernsey DL, Jiang H, Evans SC et al. Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. Am J Hum Genet 2009;85:120–129.

Dimopoulou A, Fischer B, Gardeitchik T et al. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutislaxa. Mol Genet Metab 2013;110:352–361.

Zampatti S, Castori M, Fischer B et al. De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am J Med Genet A 2012;158A:927–931.

Nakayama T, Al-Maawali A, El-Quessny M et al. Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination. Am J Hum Genet 2015;96:709–719.

Willis A, Bender HU, Steel G, Valle D.PRODH variants and risk for schizophrenia. Amino Acids 2008;35:673–679.

Mitsubuchi H, Nakamura K, Matsumoto S, Endo F. Biochemical and clinical features of hereditary hyperprolinemia Pediatr Int. 2014;56(4):492-496.

Raux G, Bumsel E, Hecketsweiler B et al. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Hum. Mol. Genet. 2007; 16: 83–91.

Bender HU, Almasham S, Steel G et al. Functional consequences of PRODH missense mutations. Am J Hum Genet 2005;76:409–420.

Farrant RD, Walker V, Mills GA, Mellor JM, Langley GJ. Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. J. Biol. Chem. 2001; 276: 15107–15116.

Mitsubuchi H, Nakamura K, Matsumoto S, Endo F. Biochemical and clinical features of hereditary hyperprolinemia. Pediatr Int 2014;56:492–496.

Clayton PT. B6-Responsive disorders: a model of vitamin dependency. J Inherit Metab D is 2006;29:317–326.

Geraghty MT, Vaughn D, Nicholson AJ et al. Mutations in the delta 1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Hum Mol Genet 1998;7:1411–1415.

Falik-Zaccai TC, Khayat M, Luder A et al. A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. Am J Med Genet [B] 2010;153:46–56.

Shrinath M, Walter JH, Haeney M et al. Prolidase deficiency and systemic lupus erythematosus. Arch Dis Child 1997;76:441–444.

Clinical Genetics of Prolidase Deficiency: An Updated Review. Spodenkiewicz M, Spodenkiewicz M, Cleary M, Massier M, Fitsialos G, Cottin V, Jouret G, Poirsier C, Doco-Fenzy M, Lèbre AS. Biology (Basel). 2020 May 21;9(5):108.

Ferreira C, Wang H. Prolidase Deficiency. In: Pagon RA, Adam MP, Ardinger HH et al. (eds) Gene Reviews [Internet]. Seattle, Washington, University of Washington, Seattle.2015 http:// www.ncbi.nlm.nih.gov/boo ks/NBK299584/

Besio R, Maruelli S, Gioia R et al. Lack of prolidase causes a bone phenotype both in human and in mouse. Bone. 2015;72:53–64.

Abela L, Simmons L, Steindl K et al.N8-acetylspermidine as a potential biomarker for Snyder-Robinson syndrome identified by clinical metabolomics. J Inherit Metab Dis 2016;39:131–137.

Hashmi MS,Gupta V. Hartnup Disease. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan.

Ciecierega T, Dweikat I, Awar M et al. Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease. BMC Pediatr 2014;14:311

Patel AB, Prabhu AS. Hartnup disease. Indian J Dermatol.2008;53(1):31-32.

Schmidtke K, Endres W, Roscher A et al. Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study. Eur J Pediatr.1992;151(12):899-903.

Näntö-Salonen K, Schiff M, Niinikoski H. Disorders of Amino Acid Transport at the Cell Membrane. In: Saudubray JM, Baumgartner MR, Walter J, eds. Inborn Metabolic Diseases. Diagnosis and Treatment, 6th ed. Berlin Heidelberg: Springer-Verlag; 2016: 363–371.

Cheon CK, Lee BH, Ko JM, Kim HJ, Yoo HW. Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. Pediatr Neurol 2010;42:369–371.

Broer S. Apical transporters for neutral amino acids; physiology and pathophysiology. Physiology 2008; 23:95–103.

Broer S. The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition. IUBMB 2009;61:591–599.

Kleta R, Romeo E, Ristic Z et al. Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet 2004;36:999–1002.

Seow HF, Broer S, Broer A et al. Hartnup disorder is caused by mutation in the gene encoding the neutral amino acid transporter SLC6A19. Nat Genet 2004;36:1003–1007.

Pillai NR, Yubero D, Shayota BJ et al. Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. Am J Med Genet A. 2019;179(12):2459-2468.

Camargo SMR, Bockenhauser D, Kleta R.Aminoacidurias: clinical and molecular aspects. Kidney Int 2008;73:918–925.