H00407 | |
H number | H00407 |
Name | Peroxisomal beta-oxidation enzyme deficiency |
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 |
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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 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 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 |