alpha-methylacyl-CoA racemase deficiency
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.
MONDO:0019233
disorder of peroxisomal beta oxidation
is_a
AMACR
exact
AMACR deficiency
exact
AMACRD
related
alpha-methylacyl-CoA racemase deficiency
exact