Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies.
Accumulation of very long chain fatty acids in X-linked and neonatal forms of adrenoleukodystrophy (ALD) appears to be a consequence of deficient peroxisomal oxidation of very long chain fatty acids. Peroxisomes were readily identified in liver biopsies taken from a patient having the X-linked disorder. However, in liver biopsies from a patient having neonatal-onset ALD, hepatocellular peroxisomes were greatly reduced in size and number, and sedimentable catalase was markedly diminished. The presence of increased concentrations of serum pipecolic acid and the bile acid intermediate, trihydroxycoprostanic acid, in the neonatal ALD patient are associated with a generalized diminution of peroxisomal activities that was not observed in the patient with X-linked ALD.
D000326:Adrenoleukodystrophy / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D000328:Adult; D000818:Animals; D001647:Bile Acids and Salts / Q000378:metabolism; D002374:Catalase / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000473:pathology*; D005260:Female; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008830:Microbodies / Q000473:pathology*; D010084:Oxidation-Reduction; D010875:Pipecolic Acids / Q000097:blood; D051381:Rats; D014960:X Chromosome
D001647:Bile Acids and Salts; D010875:Pipecolic Acids; D002374:Catalase; C031345:pipecolic acid