title: Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).
abstract: OBJECTIVE
  Transferrin isoelectrofocusing (Tf-IEF) is widely used to screen for Congenital Disorders of Glycosylation (CDG), but it is laborious, time-consuming, and not suitable for automation or accurate quantification. We present our experience and advantages of the implementation of Tf-HPLC.
  
  
  METHODS
  Sera were iron saturated, lipid precipitated and filtrated on Microcon-YM10. Glycoforms were separated by HPLC on a SOURCE 15Q anion-exchange column. Detection was at 470 nm.
  
  
  RESULTS
  We established reference values and validated the HPLC method by analysing samples with abnormal Tf-IEF. Comparison between both methods is described.
  
  
  CONCLUSIONS
  HPLC is useful for CDG screening, especially for laboratories that deal with great number of samples, due to its easy sample processing, the possibility of performing long series of analysis and the advantage of peak quantification, which allows objective interpretations.
authors.affiliation: Institut de Bioquímica Clínica, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.
authors.forename: Ester
authors.initials: E
authors.lastname: Quintana
authors.forename: Aleix
authors.initials: A
authors.lastname: Navarro-Sastre
authors.forename: José María
authors.initials: JM
authors.lastname: Hernández-Pérez
authors.forename: Judit
authors.initials: J
authors.lastname: García-Villoria
authors.forename: Raquel
authors.initials: R
authors.lastname: Montero
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
authors.forename: Antonia
authors.initials: A
authors.lastname: Ribes
authors.forename: Paz
authors.initials: P
authors.lastname: Briones
mesh_terms: D019540:Area Under Curve; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis* / Q000191:economics; D016022:Case-Control Studies; D002851:Chromatography, High Pressure Liquid / Q000191:economics / Q000379:methods*; D004032:Diet; D004492:Edetic Acid; D005633:Fructose Intolerance / Q000175:diagnosis; D005693:Galactosemias / Q000175:diagnosis; D006031:Glycosylation; D006801:Humans; D007525:Isoelectric Focusing / Q000191:economics / Q000379:methods*; D008403:Mass Screening / Q000191:economics; D012016:Reference Values; D015203:Reproducibility of Results; D014168:Transferrin / Q000378:metabolism*
chemical_list: D014168:Transferrin; D004492:Edetic Acid