KEGG   DISEASE: Peroxisomal beta-oxidation enzyme deficiency
Entry
H00407                      Disease                                
Name
Peroxisomal beta-oxidation enzyme deficiency
  Subgroup
Peroxisomal acyl-CoA oxidase deficiency [DS:H02096]
D-bifunctional protein deficiency [DS:H02098]
Alpha-methylacyl-CoA racemase deficiency [DS:H02099]
Sterol carrier protein 2 deficiency [DS:H00874]
Description
Peroxisomal beta-oxidation enzyme deficiency is a group of inherited peroxisomal diseases caused by mutation of one of genes that encode peroxisomal fatty acid beta-oxidation system enzymes. The system includes straight-chain acyl-CoA oxidase (ACOX1), 2-methylacyl CoA racemase (AMACR), D-bifunctional protein (DBP) and sterol carrier protein X (SCPx). It is known that some types of fatty acids including very-long-chain fatty acids (VLCFA), branched-chain fatty acid, and the bile acid synthesis intermediates, rely fully on peroxisomes for beta-oxidation. The enzyme defects result in the accumulation of these fatty acids in many organs. The clinical manifestations mimic those of the Zellweger syndrome spectrum. [DS:H00205]
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
     H00407  Peroxisomal beta-oxidation enzyme deficiency
Pathway-based classification of diseases [BR:br08402]
 Lipid/glycolipid metabolism
  nt06021  beta-Oxidation in peroxisome
   H00407  Peroxisomal beta-oxidation enzyme deficiency
Pathway
hsa01040  Biosynthesis of unsaturated fatty acids
hsa00120  Primary bile acid biosynthesis
hsa04146  Peroxisome
Network
nt06021 beta-Oxidation in peroxisome
Gene
ACOX1 [HSA:51] [KO:K00232]
HSD17B4 [HSA:3295] [KO:K12405]
AMACR [HSA:23600] [KO:K01796]
SCP2 [HSA:6342] [KO:K08764]
Other DBs
ICD-11: 5C57.1
ICD-10: E71.3
MeSH: C536662 C536663 C565768 C566654
OMIM: 264470 261515 614307 613724
Reference
PMID:17347916
  Authors
Shimozawa N
  Title
Molecular and clinical aspects of peroxisomal diseases.
  Journal
J Inherit Metab Dis 30:193-7 (2007)
DOI:10.1007/s10545-007-0516-z
Reference
PMID:16376506
  Authors
Funato M, Shimozawa N, Nagase T, Takemoto Y, Suzuki Y, Imamura Y, Matsumoto T, Tsukamoto T, Kojidani T, Osumi T, Fukao T, Kondo N
  Title
Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies.
  Journal
Brain Dev 28:287-92 (2006)
DOI:10.1016/j.braindev.2005.10.010
Reference
PMID:20064629
  Authors
Wanders RJ, Ferdinandusse S, Brites P, Kemp S
  Title
Peroxisomes, lipid metabolism and lipotoxicity.
  Journal
Biochim Biophys Acta 1801:272-80 (2010)
DOI:10.1016/j.bbalip.2010.01.001

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Network (1)   
   KEGG NETWORK (1)   
Disease (4)   
   OMIM (4)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (3)   
   PubMed (3)   
All databases (16)   

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