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