Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > MCAD deficiency

MCAD deficiency

MIM.201450 1p31

Wednesday 20 April 2005

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