NETWORK: N00778
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Entry
N00778 Network
Name
ACOX1 deficiency in beta-oxidation
Definition
Very-long-chain-acyl-CoA(n) -- ACOX1*
Expanded
C20876 -- 51v1
Class
nt06021
beta-Oxidation in peroxisome
Type
Variant
Disease
H00407
Peroxisomal beta-oxidation enzyme deficiency
H02096
Peroxisomal acyl-CoA oxidase deficiency
Gene
51
ACOX1; acyl-CoA oxidase 1
Variant
51v1
(ACOX1*) ACOX1 deficiency
Metabolite
C20876
Very-long-chain acyl-CoA
Reference
PMID:
11815777
Authors
Suzuki Y, Iai M, Kamei A, Tanabe Y, Chida S, Yamaguchi S, Zhang Z, Takemoto Y, Shimozawa N, Kondo N
Title
Peroxisomal acyl CoA oxidase deficiency.
Journal
J Pediatr 140:128-30 (2002)
DOI:
10.1067/mpd.2002.120511
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