Alpha-methylacyl-CoA racemase deficiency
MONDO:0013681A 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.
Also known as: AMACR, AMACR deficiency, alpha-methylacyl-CoA racemase deficiency, AMACRD
3 clinical trials for this condition and its sub-types.
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Broader categories
Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Disease of genetic or genomic mechanism
(2)
Peroxisomal disease
(2)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)
Disorder of peroxisomal beta oxidation
(0)