Alpha-methylacyl-CoA racemase deficiency;
AMACR deficiency

Peroxisomal beta-oxidation enzyme deficiency [DS:H00407]

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.

Congenital disorder of metabolism

nt06021  beta-Oxidation in peroxisome

AMACR [HSA:23600] [KO:K01796]

PMID:20821052

Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.

J Inherit Metab Dis 33 Suppl 3:S349-53 (2010)
DOI:10.1007/s10545-010-9183-6

PMID:10655068

Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.

Nat Genet 24:188-91 (2000)
DOI:10.1038/72861