MCAD

Long Name: Medium-Chain Acyl-CoA Dehydrongenase Deficiency

Symptoms: Afflicts infants or young children with episodes of encephalopathy, enlarged and fatty degeneration of the liver, and low carnitine in the blood.

Cause: Autosomal recessive

Treatment: See Beta-oxidation Defects

Links: https://rarediseases.info.nih.gov/diseases/540/medium-chain-acyl-coenzyme-a-dehydrogenase-deficiency