Organik Asidemiler
Özet
Organik asidemiler, dallı zincirli aminoasitlerin metabolizmasındaki enzim eksikliklerine bağlı olarak vücutta toksik organik asitlerin birikmesiyle karakterize, otozomal resesif kalıtılan metabolik hastalıklar grubudur. Erken çocukluk döneminde kusma, letarji, asidoz ve koma gibi ağır klinik tablolarla kendini gösteren bu hastalıkların tanısı, spesifik vücut sıvısı analizleri ve genetik tetkiklerle konulmaktadır. Tedavi süreci; diyet düzenlemeleri, metabolik kriz yönetimi ve ihtiyaç durumunda hemodiyaliz veya organ nakli gibi multidisipliner yaklaşımları içermektedir. Erken tanı ve doğru yönetim, geri dönüşümsüz nörolojik hasarların önlenmesi açısından hayati öneme sahiptir.
Organic acidemias are a group of autosomal recessive metabolic disorders characterized by the accumulation of toxic organic acids in the body due to enzymatic defects in the catabolism of branched-chain amino acids. These conditions often present in early childhood with severe clinical symptoms such as vomiting, lethargy, metabolic acidosis, and coma, necessitating prompt diagnosis through specific fluid analysis and genetic testing. Management involves multidisciplinary approaches, including strict dietary restrictions, metabolic crisis control, and interventions such as hemodialysis or organ transplantation. Early detection and consistent treatment are critical for preventing irreversible neurological damage and improving clinical outcomes.
Referanslar
Saudubray JM, Baumgartner MR, Walter J Eds. Inborn Metabolic Diseases Diagnosis and Treatment. 6th Edition. Berlin, Heidelberg; Springer; 2016. p. 277-294.
Kliegman RM, Stanton BF, St Geme JW, Schor NF, Behrman RE. Nelson Textbook of Pediatrics. 20th Edition. Philadelphia; Elsevier; 2016. p. 649-684.
Amanvermez R, Avcı B. Marks Tıbbi Biyokimyanın Esasları Klinik Yaklaşım. İkinci baskı. İstanbul:İstanbul Medikal Sağlık ve Yayıncılık Hiz. Tic. Ltd. Şti.;2017. p. 525-527.
Simon E, Wendel U, Schadewaldt P. Maple syrup urine disease-treatment and outcome in patients of Turkish descent in Germany. The Turkish Journal of Pediatrics. 2005; 47: 8-13.
Schillaci LAP, DeBrosse SD, McCandless SE. Inborn Errors of Metabolism with Acidosis. Pediatr Clin N Am. 2018; 65:209-230.
Çoşkun T, Yurdakök M. Yenidoğanda Kalıtsal Metabolik Hastalıklar.Ankara; Güneş Tıp Kitapevleri Ltd. Şti.;2014. p.97-102.
Fraser JL, Venditti CP. Methylmalonic and Propionic Acidemias: Clinical Management Update. Curr Opin Pediatr. 2016 December; 28(6):682-693.
Tanacan A, Gurbuz BB, Aydın E, Erden M, Coskun T, Beksac MS. Prenatal diagnosis of organic asidemias at a tertiary center. BJMG. 2019; 22 (1):29-34.
Aldubayan SH, Rodan LH, Berry GT, Levy HL. Acute Illness Protocol for Organic Acidemias. Pediatr Emer Care. 2017; 33:142-146.
Aygun F, Varol F, Aktuglu CZ, Kıykım E, Cam H. Continuous Renal Replacement Therapy with High Flow Rate Can Effectively, Safely and Quickly Reduce Plasma Ammonia and Leucine Levels in Children.
Ghai SJ, Joffe AR, Bond GY, Siriwardena K, Chan A et al. Pre-school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched-comparison study. JIMD reports. 2020; 52:43-54.
Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M et al. Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades. Molecular Genetics and Metabolism. 2020; 131:325–340.
Foran J, Moore M, Crushell E, Knerr I, McSweeney N. Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma. JIMD reports. 2021; 58:12-20.
Zschocke J, Hoffmann GF. Vademecum Metabolicum Diagnosis and Treatment of Inherited Metabolic Disorders. 5th Edition. Stuttgart, Germany; Nutricia :2020.p 121.
Erçin S, Ovalı F. Yenidoğan Taramaları. Klinik Tıp Pediatri Dergisi.2019; 11(4):193-199.
