KEGG   NETWORK: N00781
Entry
N00781                      Network                                

Name
AMACR deficiency in beta-oxidation
Definition
Trihydroxycholestanoyl-CoA -- AMACR*
  Expanded
C15613 -- 23600v1
Class
nt06021 beta-Oxidation in peroxisome
Type
Variant
Disease
H00407  Peroxisomal beta-oxidation enzyme deficiency
H02099  Alpha-methylacyl-CoA racemase deficiency
Gene
23600  AMACR; alpha-methylacyl-CoA racemase
Variant
23600v1 (AMACR*)  AMACR deficiency
Metabolite
C15613  (25R)-3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestan-26-oyl-CoA
Reference
PMID:9584266
  Authors
Sequeira JS, Vellodi A, Vanier MT, Clayton PT
  Title
Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates.
  Journal
J Inherit Metab Dis 21:149-54 (1998)
DOI:10.1023/A:1005395709826
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