Özet:

Aim: A group of metabolic diseases defined as “organic acidemia” is caused by enzyme dysfunctions in branched-chain amino acids, namely valine, leucine and isoleucine metabolism. The most commonly seen diseases in this group are maple syrup urine disease (MSUD), isovaleric acidemia (IVA) and methyl malonic acidemia (MMA). The purpose of our study is to demonstrate the effect of clinical presentations and alterations during follow-up on progression of the disease. Materials and Methods: We evaluated retrospectively the demographical, clinical and laboratory charasteristics of the patients with MSUD, IVA, propionic asiduri and MMA who had been followed-up in Ege University Faculty of Medicine, Department of Child Health and Diseases, Pediatric Metabolism and Nutrition Division. Results: A total of 47 patients who were followed-up between 2005-2015 were included in our evaluation. Twenty-one patients were diagnosed with MMA, 17 with MSUD, 5 with propionic asiduri and four with IVA. Mean follow-up period was 6.31±4.3 years. Nineteen patients were diagnosed during neonatal period, 10 in the first six months of life, 6 in the 6-12 month period and 12 after the patients first birthday. Thirteen patients underwent dialysis. Chronic renal failure was observed in one patient with MMA. One patient with MMA underwent liver transplantation due to liver failure. Twenty-one patients had neuromotor retardation. Three patients died. Conclusion: Branched chain aminoacidopathies require integrated management of general medical care and nutrition. The acute metabolic decompensation and neurological deterioration attribute to severe sequelae. The age of diagnosis and subsequent metabolic control are the most important determinants of long-term prognosis.

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