title: Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG).
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.
authors.affiliation: Department of Paediatrics, University of Essen, Essen, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Grünewald
authors.forename: R
authors.initials: R
authors.lastname: De Vos
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D001648:Bile Canaliculi / Q000473:pathology; D001707:Biopsy, Needle; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000473:pathology* / Q000648:ultrastructure; D006031:Glycosylation; D022781:Hepatocytes / Q000473:pathology* / Q000648:ultrastructure; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology* / Q000648:ultrastructure; D007223:Infant; D008247:Lysosomes / Q000235:genetics / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology*; D008854:Microscopy, Electron; D008871:Microvilli / Q000473:pathology; D012189:Retrospective Studies