Peroxisomal beta-oxidation enzyme deficiency

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]