PEDIATRIC NEUROLOGY, vol.99, pp.69-75, 2019 (SCI-Expanded)
Article / Article
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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:
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.