Branched-Chain Aminoacidopathies: Our Experience in Ege University Faculty of Medicine
Makaleler > Tam Makale · 2016
Yazarlar: Melis Demir Kose, Ebru CANDA, Mehtap Kagnici, Yasemin Hande ATİK ALTINOK, Sema KALKAN UÇAR, Sara HABİF, HÜSEYİN ONAY, Mahmut ÇOKER
JOURNAL OF PEDIATRIC RESEARCH, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2016, cilt 3, ss 76-81
DOI: 10.4274/jpr.76598
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.