Alpha-methylacyl-CoA racemase deficiency
Definition:
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder associated with a variable phenotype ranging from neonatal cholestasis to late-onset sensorimotor neuropathy. Homozygous mutation in the AMACR gene has been described. AMACR deficiency results in accumulation of the R- isomers of pristanic acid as well as a bile acid deficiency.
References:
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[1]. Emily Helen Smith, et al. An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. [Content Brief]
[2]. S Ferdinandusse, et al. Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet. 2000 Feb;24(2):188-91. [Content Brief]
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