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Medical Definition of Peroxisomal disorders
1. A heterogeneous group of inherited metabolic disorders in which peroxisomes are either defective or totally lacking and/or there is a dysfunction of single or multiple peroxisomal enzymes. Patients show metabolic defects in all the major biosynthetic peroxisomal pathways, especially failure to synthesise ether lipids, or to oxidise long-chain fatty acids, and accumulate bile acid precursors. The disorders include zellweger syndrome, infantile refsum disease, rhizomelic chondrodysplasia (chondrodysplasia punctata, rhizomelic), and hyperpipecolic acidemia. (12 Dec 1998)
Lexicographical Neighbors of Peroxisomal Disorders
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