Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Homozygous mutation in the AMACR gene has been described. AMACR deficiency results in accumulation of the R- isomers of pristanic acid as well as a bile acid deficiency.
