|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes/proteins associated with the disease Medium chain acyl CoA dehydrogenase deficiency from the curated CTD Gene-Disease Associations dataset.
|ACADM||acyl-CoA dehydrogenase, C-4 to C-12 straight chain||2.88009|