Alpha-methylacyl-CoA racemase deficiency
Alpha-methylacyl-CoA racemase deficiency
Definition
A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.
Also known as alpha-methylacyl-CoA racemase deficiency, AMACR, AMACR deficiency — per MONDO