title: Hepatic peroxisomal abnormalities in abetalipoproteinemia.
abstract: Spinocerebellar degeneration in a 17-yr-old boy with abetalipoproteinemia was associated with vitamin E deficiency and hepatic steatosis. In liver biopsy samples before and after 15 mo of vitamin E treatment, hepatocellular peroxisomes were morphologically abnormal; pleomorphic, with a broadened range of sizes; often larger than normal; and with marginal bars in some. In the first sample, peroxisomes exhibited matrical heterogeneity and dense nucleoids. Peroxisomes in the second biopsy sample lacked nucleoids and contained more homogeneous matrices. The mean peroxisomal diameter increased from 0.77 +/- 0.33 to 0.86 +/- 0.32 microM (normal, 0.62 +/- 0.14). These observations raise the possibility that peroxisomes may be involved in the metabolism of apolipoprotein B or may be affected by the disturbances of hepatocellular lipid metabolism caused by this disease.
authors.affiliation: Department of Pediatrics, Albert Einstein College of Medicine, Bronx, New York.
authors.forename: J C
authors.initials: JC
authors.lastname: Collins
authors.forename: I H
authors.initials: IH
authors.lastname: Scheinberg
authors.forename: D R
authors.initials: DR
authors.lastname: Giblin
authors.forename: I
authors.initials: I
authors.lastname: Sternlieb
mesh_terms: D000012:Abetalipoproteinemia / Q000473:pathology*; D000293:Adolescent; D001706:Biopsy; D006801:Humans; D008099:Liver / Q000648:ultrastructure*; D008297:Male; D008830:Microbodies / Q000648:ultrastructure*; D008854:Microscopy, Electron