Copy For Citation
YILDIZ Y., TALİM B., Haliloglu G., Topaloglu H., AKÇÖREN Z., DURSUN A., ...More
PEDIATRIC NEUROLOGY, vol.99, pp.69-75, 2019 (SCI-Expanded)
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Publication Type:
Article / Article
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Volume:
99
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Publication Date:
2019
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Doi Number:
10.1016/j.pediatrneurol.2019.06.015
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Journal Name:
PEDIATRIC NEUROLOGY
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Journal Indexes:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Page Numbers:
pp.69-75
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Keywords:
Electron transport flavoprotein, Glutaric aciduria type 2, Lipid storage myopathy, Multiple acyl-CoA dehydrogenase deficiency, Riboflavin, ELECTRON-TRANSFER FLAVOPROTEIN, MUTATIONS, TRANSPORT, COHORT
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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.