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alpha-methylacyl-CoA racemase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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.
Uniprot Description A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.
Disease Ontology Description A peroxisomal disease that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. It is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism.
Mondo Term and Equivalent IDs
MONDO:0013681:  alpha-methylacyl-CoA racemase deficiency
EFO:1001980: 
MESH:C565768: 
NCIT:C119677: 
SCTID:700463002: 
UMLS:C3280428: