has material basis in germline mutation in AMACR alpha-methylacyl-CoA racemase deficiency https://www.malacards.org/card/alpha_methylacyl_coa_racemase_deficiency OMIM:614307 UMLS:C3280428 NANDO:1200768 MONDO:0013681 EFO:1001980 alpha-methylacyl-CoA racemase deficiency AMACR deficiency GARD:0015787 AMACR AMACRD MEDGEN:482058 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. NCIT:C119677 MESH:C565768 DOID:0060602 SCTID:700463002 disorder of peroxisomal beta oxidation