Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe

Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a fatty acid and amino acid oxidation defect caused by a deficiency of the electron-transfer flavoprotein (ETF) or the electron-transfer flavoprotein dehydrogenase (ETFDH). There are three phenotypes of the disease, two neonatal forms and one late...

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Bibliographic Details
Main Authors: Orna Staretz-Chacham, Shirly Amar, Shlomo Almashanu, Ben Pode-Shakked, Ann Saada, Ohad Wormser, Eli Hershkovitz
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Genes
Subjects:
multiple acyl-CoA dehydrogenase deficiency (MADD)
electron-transfer flavoprotein (ETF)
electron-transfer flavoprotein dehydrogenase (ETFDH)
genotype
phenotype
Online Access:https://www.mdpi.com/2073-4425/12/8/1140

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