The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG)

Abstract

Congenital disorders of glycosylation (CDG) are a family of rare inherited metabolic disorders. This study aimed to examine the carbohydrate-deficient transferrin (CDT) screening results of 1,328 patients with suspected CDG by using transferrin-high pressure liquid chromatography (Tf-HPLC) method and to evaluate the performance of the method as a reference diagnostic tool.

Keywords

• congenital disorders of glycosylation (cdg)
• serum transferrin
• inborn errors of metabolism
• n-glycosylation
• hplc
• diagnosis