KEGG   DISEASE: Peroxisomal acyl-CoA oxidase deficiencyHelp
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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Peroxisomal diseases
   H02096  Peroxisomal acyl-CoA oxidase deficiency
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
BRITE hierarchy
Pathway
hsa00071 Fatty acid degradation   
hsa01040 Biosynthesis of unsaturated fatty acids   
hsa03320 PPAR signaling pathway   
hsa04146 Peroxisome   
Network
nt06021  beta-Oxidation in peroxisome
  Element
N00778  ACOX1 deficiency in beta-oxidation
Gene
ACOX1 [HSA:51] [KO:K00232]
Other DBs
ICD-11: 5C57.1
ICD-10: E71.3
MeSH: C536662
OMIM: 264470
Reference
  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
  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
LinkDB All DBs

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