KEGG   DISEASE: H00407Help
Entry
H00407                      Disease                                

Name
Peroxisomal beta-oxidation enzyme deficiency, including:
Acyl-CoA oxidase (ACOX) deficiency;
D-bifunctional protein (DBP) deficiency;
Perrault syndrome;
Sterol carrier protein X (SCPx) deficiency;
2-Methylacyl-CoA racemase (AMCR) deficiency;
Hypercholanemia
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 disease; Peroxisomal disease
BRITE hierarchy
Pathway
Fatty acid metabolism
Primary bile acid biosynthesis
alpha-Linolenic acid metabolism
Biosynthesis of unsaturated fatty acids
PPAR signaling pathway
Peroxisome
Gene
ACOX1; acyl-CoA oxidase 1 [HSA:51] [KO:K00232]
AMACR; alpha-methylacyl-CoA racemase [HSA:23600] [KO:K01796]
SCL2; sterol carrier protein 2 [HSA:6342] [KO:K08764]
HSD17B4; D-bifunctional protein [HSA:3295] [KO:K12405]
BAAT; bile acid-CoA:amino acid N-acyltransferase [HSA:570] [KO:K00659]
Marker
(ACOX1, DBP) increased VLCFA
(SCPx, AMACR) increased phytanic acid [CPD:C01607] and pristanic acid
Other DBs
Reference
  Authors
Shimozawa N
  Title
Molecular and clinical aspects of peroxisomal diseases.
  Journal
J Inherit Metab Dis 30:193-7 (2007)
Reference
  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)
Reference
  Authors
Wanders RJ, Ferdinandusse S, Brites P, Kemp S
  Title
Peroxisomes, lipid metabolism and lipotoxicity.
  Journal
Biochim Biophys Acta (2010)

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