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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 99
  • Publication Date: 2019
  • Doi Number: 10.1016/j.pediatrneurol.2019.06.015
  • Title of Journal : PEDIATRIC NEUROLOGY
  • 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


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.