Medium chain acyl CoA dehydrogenase deficiency Gene Set

Dataset CTD 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)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C536038
Similar Terms
Downloads & Tools

Genes

1 genes/proteins associated with the disease Medium chain acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain 2.88009