Late-onset multiple acyl-CoA dehydrogenase deficiency: an insidious presentation.

Abstract excerpt

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism that results in impairment of mitochondrial β-oxidation of fatty acids. It is inherited in an autosomal recessive manner and impairs electron transfer in the electron transport chain. The clinical manifestations of MADD are highly variable and include exercise intolerance, myopathy, cardiomyopathy, encephalopathy, coma and...

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• Acyl-CoA Dehydrogenase
• Australia
• Electron-Transferring Flavoproteins
• Multiple Acyl Coenzyme A Dehydrogenase Deficiency
• Mutation