MCAD deficiency
MIM.201450 1p31
medium-chain acyl-CoA dehydrogenase deficiency
Autosomal recessive fatty acid oxidation disorder. Most common disorder of fatty acid oxidation (1/13,000 births).
Synospsis
from asymptomatic to fulminant course
onset precipitated by fasting or illness
possible sudden death
- neonatal sudden death
- sudden death in infancy (SIDS-like)
hepatomegaly
- heaptic steatosis
cerebral edema
Biology
Absent to trace urine and plasma ketones
Mild metabolic acidosis
Hypoglycemia
Mildly elevated blood ammonia
Medium chain dicarboxylic aciduria
low plasma carnitine
Acylglycinuria
Etiology
medium-chain acyl-CoA dehydrogenase deficiency is caused by mutation in the medium-chain acyl-CoA dehydrogenase gene (ACADM) (MIM.607008)
See also
fatty acid oxidation diseases