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Article

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

Genes - 28 Jul 2021

Staretz-Chacham Orna, Amar Shirly, Almashanu Shlomo, Pode-Shakked Ben, Saada Ann, Wormser Ohad, Hershkovitz Eli

Abstract excerpt

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-onset. Previous studies have suggested that there is a phenotype-genotype correlation. We report on six patients...

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Identifiers

PMID: 34440319
DOI: 10.3390/genes12081140
PMCID: PMC8393905

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Multiple Acyl-CoA Dehydrogenase Deficiency with Variable Presentation Due to a Homozygous Mutation in a Bedouin Tribe.PMID 34440319Read ↗

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