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Alpha-methylacyl-CoA racemase (AMACR) catalyzes the racemization of 2-methyl-branched fatty acid CoA esters. AMACR is responsible for the conversion of pristanoyl-CoA and C27-bile acyl-CoAs to their (S)-stereoisomers. Defects in AMACR are the cause of alpha-methylacyl-CoA racemase deficiency (AMACRD). AMACRD results in elevated plasma concentrations of pristanic acid C27-bile-acid intermediates. AMACRD is associated with polyneuropathy, retinitis pigmentosa, epilepsy.