Branched-Chain Aminoacidopathies: Our Experience in Ege University Faculty of Medicine


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Kose M. D. , Canda E., Kagnici M., Altinok Y. A. , Ucar S. K. , Habif S. , ...More

JOURNAL OF PEDIATRIC RESEARCH, vol.3, no.2, pp.76-81, 2016 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 3 Issue: 2
  • Publication Date: 2016
  • Doi Number: 10.4274/jpr.76598
  • Title of Journal : JOURNAL OF PEDIATRIC RESEARCH
  • Page Numbers: pp.76-81

Abstract

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.