Screening for congenital disorders of glycosylation (CDG): Transferrin HPLC versus isoelectric focusing (IEF)

Clinical Biochemistry

Volumn 42, Issue 4-5, 2009, Pages 408-415

  Quintana, Ester ^a   Navarro Sastre, Aleix ^a,c   Hernández Pérez, José María ^a   García Villoria, Judit ^a,c   Montero, Raquel ^b,c   Artuch, Rafael ^b,c   Ribes, Antonia ^a,c   Briones, Paz ^a,c,d  

^a HOSPITAL CLÍNIC   (Spain)

^b HOSPITAL SANT JOAN DE DÉU   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^d CSIC   (Spain)

Author keywords

Congenital Disorders of Glycosylation (CDG); HPLC; Isoelectric focusing (IEF); Sialotransferrin isoforms

Indexed keywords

TRANSFERRIN; EDETIC ACID;

ANALYTIC METHOD; ANION EXCHANGE; ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL DISORDERS OF GLYCOSYLATION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; FEMALE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; INBORN ERROR OF METABOLISM; INTERMETHOD COMPARISON; ISOELECTRIC FOCUSING; PRIORITY JOURNAL; QUANTITATIVE DIAGNOSIS; SCHOOL CHILD; SCREENING; VALIDATION PROCESS; AREA UNDER THE CURVE; CARBOHYDRATE METABOLISM, INBORN ERRORS; CASE CONTROL STUDY; COMPARATIVE STUDY; DIET; ECONOMICS; FRUCTOSE INTOLERANCE; GALACTOSEMIAS; GLYCOSYLATION; MASS SCREENING; METABOLISM; PROCEDURES; REFERENCE VALUE; REPRODUCIBILITY;

AREA UNDER CURVE; CARBOHYDRATE METABOLISM, INBORN ERRORS; CASE-CONTROL STUDIES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DIET; EDETIC ACID; FRUCTOSE INTOLERANCE; GALACTOSEMIAS; GLYCOSYLATION; HUMANS; ISOELECTRIC FOCUSING; MASS SCREENING; REFERENCE VALUES; REPRODUCIBILITY OF RESULTS; TRANSFERRIN;

EID: 60949099654     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2008.12.013     Document Type: Article

References (23)

1. Jaeken J., and Matthijs G. Congenital disorders of glycosylation: a rapidly expanding disease family. Annu. Rev. Genomics Hum. Genet. 8 (2007) 261-278
2. Jaeken J., Hennet T., Freeze H., and Matthijs G. On the nomenclature of congenital disorders of glycosylation (CDG). J Inherit Metab Dis 31 (2008) 669-672
3. Marklova E., and Albahri Z. Screening and diagnosis of congenital disorders of glycosylation. Clin. Chim. Acta 385 (2007) 6-20
4. Grünewald S. Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders. Early Hum. Dev. 83 (2007) 825-830
5. Jaeken J. Congenital disorders of glycosylation (CDG): update and developments. J. Inherit. Metab. Dis. 27 (2004) 423-426
6. Dupre T., David A., Viullaumier-Barrot S., Le Bizec C., Barnier A., Durand G., and Seta N. About an asymptomatic congenital disorder of glycosylation (CDG-Ia) subject. J. Inherit. Metab. Dis. 28 Suppl. 1 (2005) 197
7. Pancho C., Garcia-Cazorla A., Varea V., Artuch R., Ferrer I., Vilaseca M.A., et al. Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment. J. Pediatr. Gastroenterol. Nutr. 40 (2005) 320-322
8. Freeze H.H. Congenital disorders of glycosylation and the pediatric liver. Semin. Liver Dis. 21 (2001) 501-515
9. Freeze H.H., and Aebi M. Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity. Biochim. Biophys. Acta 1455 (1999) 167-178
10. Landberg E., Pahlsson P., Lundblad A., Arnetorp A., and Jeppsson J.-O. Carbohydrate composition of serum transferrin isoforms from patients with high alcohol consumption. Biochem. Biophys. Res. Commun. 210 (2005) 267-274
11. Carchon H.A., Chevigné R., Falmagne J.B., and Jaeken J. Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. Clin. Chem. 50 (2004) 101-111
12. Helander A., Husa A., and Jeppsson J.O. Improved HPLC method for carbohydrate-deficient transferrin in serum. Clin. Chem. 49 (2003) 1881-1890
13. Helander A., Bergström J., and Freeze H.H. Testing for congenital disorders of glycosylation by HPLC measurement of serum transferrin glycoforms. Clin. Chem. 50 (2004) 954-958
14. Knopf C., Rod R., Jaeken J., Berant M., Van Schaftingen E., Fryns JP., et al. Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism. J. Inherit. Metab. Dis. 23 (2000) 399-403
15. Briones P., Vilaseca M.A., Schollen E., Ferrer I., Maties M., Busquets C., et al. Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. J. Inherit. Metab. Dis. 25 (2002 Dec) 635-646
16. Van Eijk H.G., van Noort W.L., Dubelaar M.L., and van der Heul C. The microheterogeneity of human transferrins in biological fluids. Clin. Chim. Acta 132 (1983) 167-171
17. Albahri Z., Marklová E., Vanícek H., Minxová L., Dédek P., and Skálová S. Genetic variants of transferrin in the diagnosis of protein hypoglycosylation. J. Inherit. Metab. Dis. 28 (2005) 1184-1188
18. Helander A., Eriksson G., Stibler H., and Jeppsson J.O. Interference of transferrin isoform types with carbohydrate-deficient transferrin quantification in the identification of alcohol abuse. Clin. Chem. 47 (2001) 1225-1233
19. Jaeken J., and Matthijs G. Congenital disorders of glycosylation. Annu. Rev. Genomics Hum. Gene. 2 (2001) 129-151
20. Pérez-Cerdá C., Quelhas D., Vega I A., Ecay J., Vilarinho L., and Ugarte M. Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease. Clin. Chem. 54 (2008) 93-100
21. Jaeken J. Komrower lecture. Congenital disorders of glycosylation (CDG): it's all in it!. J. Inherit. Metab. Dis. 26 (2003) 99-118
22. Grünewald S., Matthijs G., and Jaeken J. Congenital disorders of glycosylation: a review. Pediatr. Res. 52 (2002) 618-624
23. Jeppsson J.-O. Isolation and partial characterization of three human transferrin variants. Biochim. Biophys. Acta 140 (1967) 468-476