Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency


YILDIZ Y. , TALİM B. , Haliloglu G., Topaloglu H., AKÇÖREN Z. , DURSUN A. , ...Daha Fazla

PEDIATRIC NEUROLOGY, cilt.99, ss.69-75, 2019 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

Background: Multiple acyl-CoA dehydrogenase (MADD) deficiency, which is a rare metabolic disorder involving electron transport flavoproteins, has a wide array of clinical phenotypes. In this article, we describe 25 patients with MADD deficiency and present the clinical and laboratory characteristics and diagnostic challenges associated with riboflavin-responsive MADD deficiency.