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) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 99
  • Publication Date: 2019
  • Doi Number: 10.1016/j.pediatrneurol.2019.06.015
  • 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


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.