IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia.

ABSTRACT: Classical galactosaemia (OMIM #230400) is a rare disorder of carbohydrate metabolism caused by deficiency of the galactose-1-phosphate uridyltransferase enzyme (EC 2.7.7.12). The cause of the long-term complications, including neurological, cognitive and fertility problems in females, remains poorly understood. The relatively small number of patients with galactosaemia and the lack of validated biomarkers pose a substantial challenge for determining prognosis and monitoring disease progression and responses to new therapies. We report an improved method of automated robotic hydrophilic interaction ultra-performance liquid chromatography N-glycan analysis for the measurement of IgG N-glycan galactose incorporation ratios applied to the monitoring of adult patients with classical galactosaem

SUBMITTER: Stockmann H 

PROVIDER: S-EPMC4864864 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature