OBJECTIVE: The aim of this study was to provide a tool based on CDT measurements for a diagnostic approach to identify patients affected by congenital disorders of glycosylation (CDG) in a selected population. DESIGN AND METHODS: Serum carbohydrate-deficient transferrin (CDT) of pediatric and adult patients (a total of 168 individuals) with neurological symptoms was analyzed. Abnormal results were confirmed by HPLC analysis and by enzymatic and molecular studies. RESULTS: We found 6 patients (3.8%) with abnormal serum CDT; only two of them (1.9%) showed increased amounts of disialo and asialo with HPLC analysis and were classified as CDG-Ia, the most frequent form of CDG, due to a deficiency of the phosphomannomutase enzyme. CONCLUSIONS: The CDT quantitative immunoturbidimetric procedure is a useful tool for CDG screening. HPLC analysis, however, permitted the correct identification of asialo and disialo transferrin concentrations.
OBJECTIVE: The aim of this study was to provide a tool based on CDT measurements for a diagnostic approach to identify patients affected by congenital disorders of glycosylation (CDG) in a selected population. DESIGN AND METHODS: Serum carbohydrate-deficient transferrin (CDT) of pediatric and adult patients (a total of 168 individuals) with neurological symptoms was analyzed. Abnormal results were confirmed by HPLC analysis and by enzymatic and molecular studies. RESULTS: We found 6 patients (3.8%) with abnormal serum CDT; only two of them (1.9%) showed increased amounts of disialo and asialo with HPLC analysis and were classified as CDG-Ia, the most frequent form of CDG, due to a deficiency of the phosphomannomutase enzyme. CONCLUSIONS: The CDT quantitative immunoturbidimetric procedure is a useful tool for CDG screening. HPLC analysis, however, permitted the correct identification of asialo and disialo transferrin concentrations.
Authors: J E H Gründahl; Z Guan; S Rust; J Reunert; B Müller; I Du Chesne; K Zerres; S Rudnik-Schöneborn; N Ortiz-Brüchle; M G Häusler; J Siedlecka; E Swiezewska; C R H Raetz; T Marquardt Journal: Mol Genet Metab Date: 2011-12-29 Impact factor: 4.797
Authors: K Dörre; M Olczak; Y Wada; P Sosicka; M Grüneberg; J Reunert; G Kurlemann; B Fiedler; S Biskup; K Hörtnagel; S Rust; T Marquardt Journal: J Inherit Metab Dis Date: 2015-03-17 Impact factor: 4.982
Authors: Esther Schrapers; Laura C Tegtmeyer; Gunter Simic-Schleicher; Volker Debus; Janine Reunert; Sebastian Balbach; Karin Klingel; Ingrid Du Chesne; Anja Seelhöfer; Manfred Fobker; Thorsten Marquardt; Stephan Rust Journal: JIMD Rep Date: 2015-08-25
Authors: Laura C Tegtmeyer; Stephan Rust; Monique van Scherpenzeel; Bobby G Ng; Marie-Estelle Losfeld; Sharita Timal; Kimiyo Raymond; Ping He; Mie Ichikawa; Joris Veltman; Karin Huijben; Yoon S Shin; Vandana Sharma; Maciej Adamowicz; Martin Lammens; Janine Reunert; Anika Witten; Esther Schrapers; Gert Matthijs; Jaak Jaeken; Daisy Rymen; Tanya Stojkovic; Pascal Laforêt; François Petit; Olivier Aumaître; Elzbieta Czarnowska; Monique Piraud; Teodor Podskarbi; Charles A Stanley; Reuben Matalon; Patricie Burda; Soraya Seyyedi; Volker Debus; Piotr Socha; Jolanta Sykut-Cegielska; Francjan van Spronsen; Linda de Meirleir; Pietro Vajro; Terry DeClue; Can Ficicioglu; Yoshinao Wada; Ron A Wevers; Dieter Vanderschaeghe; Nico Callewaert; Ralph Fingerhut; Emile van Schaftingen; Hudson H Freeze; Eva Morava; Dirk J Lefeber; Thorsten Marquardt Journal: N Engl J Med Date: 2014-02-06 Impact factor: 91.245