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PMID: 16151902 Published · ppublish English Case Reports Journal Article

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.

Journal of inherited metabolic disease ·Vol. 28 ·No. 5 ·2005-00-00 ·Pages 707-14

Spaapen LJ, Bakker JA, van der Meer SB, Sijstermans HJ, Steet RA, Wevers RA, Jaeken J

Abstract

Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver disease who died at the age of a few weeks. Increased activities of lysosomal enzymes in plasma were found, though total sialic acid in plasma was strongly decreased. Isoelectric focusing of serum sialotransferrins showed a type 2-like CDG pattern. Some of the known CDG subtypes were excluded. O-Glycosylation was investigated by isoelectric focusing of apolipoprotein C-III, which showed increased fractions of hyposialylated isoforms. In a consecutive study a defect in the conserved oligomeric Golgi complex was established at the level of subunit COG-7, leading to disruption of multiple glycosylation functions of the Golgi. This report on patients with a new variant of CDG, due to a multiple Golgi defect, emphasizes in addition to sialotransferrins the importance of analysis of a serum O-linked glycoprotein, e.g. apolipoprotein C-III, in unclassified CDG-X cases.

MeSH Terms
Apolipoprotein C-III Apolipoproteins C/metabolism Carbohydrate Metabolism, Inborn Errors/blood,diagnosis,metabolism Congenital Disorders of Glycosylation/blood,diagnosis,metabolism Family Health Female Fibroblasts/enzymology Glycoproteins/biosynthesis,blood,chemistry Glycosylation Golgi Apparatus/metabolism Humans Isoelectric Focusing Leukocytes/enzymology Liver/metabolism Lysosomes/metabolism Male N-Acetylneuraminic Acid/chemistry Protein Isoforms Siblings Transferrin/biosynthesis
Chemicals
Apolipoprotein C-III Apolipoproteins C Glycoproteins Protein Isoforms Transferrin N-Acetylneuraminic Acid
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Spaapen L J M
Department of Biochemical Genetics, Academic Hospital Maastricht, The Netherlands. leo.spaapen@gen.unimaas.nl
Bakker J A
van der Meer S B
Sijstermans H J
Steet R A
Wevers R A
Jaeken J
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Article Info
Journal
Journal of inherited metabolic disease
Abbr.
J Inherit Metab Dis
ISSN
0141-8955
DOI
10.1007/s10545-005-0015-z
Email
leo.spaapen@gen.unimaas.nl
Published
2005-00-00
Pages
707-14
Language
English
Region
United States
NLM ID
7910918
Subset
IM
External Links
PubMed source DOI: 10.1007/s10545-005-0015-z View journal details
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