Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG).
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.
Grünewald
S
S
Department of Paediatrics, University of Essen, Essen, Germany.
De Vos
R
R
Jaeken
J
J
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