medium-chain acyl-coa dehydrogenase deficiency Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention. (Orphanet Rare Disease Ontology, Orphanet_42)
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2 genes associated with the disease medium-chain acyl-coa dehydrogenase deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain