Alpha-Methylacyl-Coa Racemase Deficiency (AMACRD)

Alpha-Methylacyl-Coa Racemase Deficiency, also known as amacr deficiency, is related to bile acid synthesis defect, congenital, 4 and peroxisomal disease, and has symptoms including muscle spasticity and seizures. An important gene associated with Alpha-Methylacyl-Coa Racemase Deficiency is AMACR (Alpha-Methylacyl-CoA Racemase), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. Affiliated tissues include brain and retina, and related phenotypes are ataxia and hyperreflexia