title: Lignoceroyl-CoASH ligase: enzyme defect in fatty acid beta-oxidation system in X-linked childhood adrenoleukodystrophy.
abstract: We have previously reported that the peroxisomal beta-oxidation system for very long chain fatty acids is defective in X-linked childhood adrenoleukodystrophy [(1984) Proc. Natl. Acad. Sci. USA 81, 4203-4207]. In order to elucidate the specific enzyme defect, we examined the oxidation of [1-14C]lignoceric acid, [1-14C]lignoceroyl-CoA and (1-14C)-labelled alpha,beta-unsaturated lignoceroyl-CoA (substrates for the 1st, 2nd, and 3rd steps of the beta-oxidation cycle, respectively). These studies suggest that the pathognomonic accumulation of very long chain fatty acids in X-linked childhood ALD may be due to the defective activity of peroxisomal very long chain (lignoceroyl-CoA) acyl-CoA ligase.
mesh_terms: D000326:Adrenoleukodystrophy / Q000235:genetics / Q000378:metabolism*; D002460:Cell Line; D002648:Child; D003066:Coenzyme A Ligases / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism*; D005227:Fatty Acids / Q000378:metabolism; D008040:Genetic Linkage; D006801:Humans; D008830:Microbodies / Q000378:metabolism; D010084:Oxidation-Reduction; D014960:X Chromosome
chemical_list: D005227:Fatty Acids; D003066:Coenzyme A Ligases; C044125:lignoceroyl-CoA ligase