KEGG   DISEASE: Peroxisomal acyl-CoA oxidase deficiency
Entry
H02096                      Disease                                
Name
Peroxisomal acyl-CoA oxidase deficiency
  Supergrp
Peroxisomal beta-oxidation enzyme deficiency [DS:H00407]
Description
Peroxisomal acyl-CoA oxidase deficiency is an autosomal recessive inborn error of peroxisomal fatty acid oxidation due to a deficiency of straight-chain acyl-CoA oxidase (ACOX1). The biochemical hallmark of this disorder is the accumulation of very long-chain fatty acids. Clinically, it is characterized by neonatal hypotonia, seizures, severely delayed psychomotor development, and neurological deterioration.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C57  Peroxisomal diseases
     H02096  Peroxisomal acyl-CoA oxidase deficiency
Pathway-based classification of diseases [BR:br08402]
 Lipid/glycolipid metabolism
  nt06021  beta-Oxidation in peroxisome
   H02096  Peroxisomal acyl-CoA oxidase deficiency
Pathway
hsa01040  Biosynthesis of unsaturated fatty acids
hsa04146  Peroxisome
Network
nt06021 beta-Oxidation in peroxisome
Gene
ACOX1 [HSA:51] [KO:K00232]
Other DBs
ICD-11: 5C57.1
ICD-10: E71.3
MeSH: C536662
OMIM: 264470
Reference
PMID:18536048
  Authors
Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E
  Title
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
  Journal
Am J Med Genet A 146A:1676-81 (2008)
DOI:10.1002/ajmg.a.32298
Reference
PMID:17458872
  Authors
Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR
  Title
Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.
  Journal
Hum Mutat 28:904-12 (2007)
DOI:10.1002/humu.20535
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