KEGG   DISEASE: Alpha-methylacyl-CoA racemase deficiency
Entry
H02099                      Disease                                

Name
Alpha-methylacyl-CoA racemase deficiency;
AMACR deficiency
  Supergrp
Peroxisomal beta-oxidation enzyme deficiency [DS:H00407]
Description
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.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Peroxisomal diseases
   H02099  Alpha-methylacyl-CoA racemase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C52  Inborn errors of lipid metabolism
     H02099  Alpha-methylacyl-CoA racemase deficiency
    5C57  Peroxisomal diseases
     H02099  Alpha-methylacyl-CoA racemase deficiency
Pathway
hsa04146 Peroxisome   
hsa00120 Primary bile acid biosynthesis   
Network
nt06021  beta-Oxidation in peroxisome
  Element
N00781  AMACR deficiency in beta-oxidation
Gene
AMACR [HSA:23600] [KO:K01796]
Other DBs
ICD-11: 5C52.11 5C57.1
ICD-10: K76.8
MeSH: C565768
OMIM: 614307
Reference
  Authors
Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S
  Title
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.
  Journal
J Inherit Metab Dis 33 Suppl 3:S349-53 (2010)
DOI:10.1007/s10545-010-9183-6
Reference
  Authors
Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ
  Title
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
  Journal
Nat Genet 24:188-91 (2000)
DOI:10.1038/72861
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