Abstract | BACKGROUND: Defects in the biosynthesis of N- glycans may be found by isoelectric focusing (IEF) of plasma transferrin. No test is available to demonstrate O- glycan biosynthesis defects. METHODS: RESULTS: Age-related reference values for apoC-III were determined. Plasma samples from patients with the primary congenital disorders of glycosylation (CDG) types Ia-Ic, Ie, If, IIa, and IId all showed a normal apoC-III isofocusing profile. Plasma from two patients with CDG type IIx were tested: one showed a normal apoC-III distribution, whereas the other showed a hypoglycosylation profile. In plasma from patients with hemolytic uremic syndrome (HUS), a hypoglycosylation profile was obtained. CONCLUSIONS: IEF of apoC-III is a rapid and simple technique that may be used as a screening assay for abnormalities in core 1 mucin type O- glycans. Evidence that a patient in this study has a primary genetic defect affecting both N- and O-glycosylation provides the first example of an inborn error of metabolism affecting the biosynthesis of core 1 mucin type O- glycans. Our data narrow the options for the position of the primary defect in this patient down to a step in the biosynthesis, activation, or transfer of galactose or N-acetylneuraminic acid to both N- and O- glycans. Circulating neuraminidase excreted by Streptococcus pneumoniae caused the high percentage of asialo apoC-III in two HUS patients.
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Authors | Suzan Wopereis, Stephanie Grünewald, Eva Morava, Johannes M Penzien, Paz Briones, M Teresa García-Silva, Pierre N M Demacker, Karin M L C Huijben, Ron A Wevers |
Journal | Clinical chemistry
(Clin Chem)
Vol. 49
Issue 11
Pg. 1839-45
(Nov 2003)
ISSN: 0009-9147 [Print] England |
PMID | 14578315
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Apolipoprotein C-III
- Apolipoproteins C
- Polysaccharides
- Protein Isoforms
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Topics |
- Adolescent
- Age Factors
- Apolipoprotein C-III
- Apolipoproteins C
(genetics)
- Carbohydrate Metabolism, Inborn Errors
(diagnosis)
- Child
- Child, Preschool
- Glycosylation
- Humans
- Infant
- Infant, Newborn
- Isoelectric Focusing
- Polysaccharides
(biosynthesis)
- Protein Isoforms
(genetics)
- Reference Values
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