Peroxisomal beta-oxidation enzyme deficiency

Definition:

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]

References:

[1]. Michinori Funato, et al. Aberrant peroxisome morphology in peroxisomal beta-oxidation enzyme deficiencies. Brain Dev. 2006 Jun;28(5):287-92. [Content Brief]

[2]. N Shimozawa, et al. Molecular and clinical aspects of peroxisomal diseases. J Inherit Metab Dis. 2007 Apr;30(2):193-7. [Content Brief]

[3]. R J A Wanders, et al. Peroxisomes, lipid metabolism and lipotoxicity. Biochim Biophys Acta. 2010 Mar;1801(3):272-80. [Content Brief]

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