Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).
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.
Quintana
Ester
E
Institut de Bioquímica Clínica, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.
Navarro-Sastre
Aleix
A
Hernández-Pérez
José María
JM
García-Villoria
Judit
J
Montero
Raquel
R
Artuch
Rafael
R
Ribes
Antonia
A
Briones
Paz
P
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*
D014168:Transferrin; D004492:Edetic Acid