Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

YILDIZ, YILMAZ; TALİM, BERİL; Haliloglu, Goknur; Topaloglu, Haluk; AKÇÖREN, ZUHAL; DURSUN, ALİ; SİVRİ, SERAP; COŞKUN, TURGAY; TOKATLI, AYŞEGÜL

doi:10.1016/j.pediatrneurol.2019.06.015

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency

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

PEDIATRIC NEUROLOGY, vol.99, pp.69-75, 2019 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 99
Publication Date: 2019
Doi Number: 10.1016/j.pediatrneurol.2019.06.015
Journal Name: PEDIATRIC NEUROLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.69-75
Keywords: Electron transport flavoprotein, Glutaric aciduria type 2, Lipid storage myopathy, Multiple acyl-CoA dehydrogenase deficiency, Riboflavin, ELECTRON-TRANSFER FLAVOPROTEIN, MUTATIONS, TRANSPORT, COHORT
Hacettepe University Affiliated: Yes

Abstract

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.