Abstract | OBJECTIVE: METHODS: RESULTS: CDT concentrations were very high in the two patients with CDG-I and moderately enhanced in the remaining two. In the two CDG-I patients, Ricin analysis of immunopurified TSH showed a severe impairment of lectin binding, both before and after neuroaminidase treatment, indicating a nearly complete lack of terminal sialic acid and galactose residues. In these two cases, Con-A analysis showed a significant prevalence of firmly bound isoforms with poorly processed carbohydrate chains. In the remaining two cases with unknown CDG classification, TSH binding pattern to Ricin was modestly affected and Con-A analysis showed the prevalence of weakly bound glycoprotein isoforms. CONCLUSIONS: The results of Ricin analyses in all four patients were consistent with the CDT test and/or serum transferrin IEF. The severe alteration of TSH binding pattern to Ricin seems to be characteristic of CDG-I. Nevertheless, TSH biological properties are not severely altered, as normal thyroid function was found in both cases.
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Authors | M C Ferrari, R Parini, M D Di Rocco, G Radetti, P Beck-Peccoz, L Persani |
Journal | European journal of endocrinology
(Eur J Endocrinol)
Vol. 144
Issue 4
Pg. 409-16
(Apr 2001)
ISSN: 0804-4643 [Print] England |
PMID | 11275952
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Glycoproteins
- Hormones
- Lectins
- Thyrotropin
- Ricin
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Topics |
- Carbohydrate Metabolism, Inborn Errors
(metabolism)
- Child, Preschool
- Chromatography, Affinity
- Female
- Glycoproteins
(analysis)
- Glycosylation
- Hormones
(analysis)
- Humans
- Infant
- Lectins
- Male
- Ricin
- Thyrotropin
(blood, isolation & purification)
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