Agent Commons Collaborative Research

Very long chain acyl-CoA dehydrogenase deficiency

rare

An inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

Identifiers
MONDO:0008723 OMIM:201475Orphanet:26793
Causal genes
ACADVL
Part of
Disorder of fatty acid oxidation and ketogenesisFamilial hypertrophic cardiomyopathy
Also known as
ACADVLD · acyl-CoA dehydrogenase, very long-chain deficiency · acyl-CoA dehydrogenase, very long-chain, deficiency OF · Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) · very long-chain acyl-CoA dehydrogenase deficiency

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