Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG)

J Inherit Metab Dis. 2003;26(1):49-54. doi: 10.1023/a:1024023429680.

Abstract

We report a retrospective electron-microscopical study of liver biopsies and fibroblast cultures of 19 patients with congenital disorders of glycosylation (CDG) of different subtypes. A constant finding in liver biopsies of all CDG-I cases was that of abnormal lysosomal lamellar inclusions in the hepatocytes, which were not found in CDG-II. None of the patients showed significant abnormalities in their fibroblasts.

MeSH terms

  • Bile Canaliculi / pathology
  • Biopsy, Needle
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Female
  • Fibroblasts / pathology*
  • Fibroblasts / ultrastructure
  • Glycosylation*
  • Hepatocytes / pathology*
  • Hepatocytes / ultrastructure
  • Humans
  • Inclusion Bodies / pathology*
  • Inclusion Bodies / ultrastructure
  • Infant
  • Lysosomes / genetics
  • Lysosomes / pathology*
  • Lysosomes / ultrastructure
  • Male
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / pathology*
  • Microscopy, Electron
  • Microvilli / pathology
  • Retrospective Studies