Abnormal N‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake

Autor: Eileen P. Treacy, Sebastian Vencken, Annet M. Bosch, Matthias Gautschi, Estela Rubio‐Gozalbo, Charlotte Dawson, Darragh Nerney, Hugh Owen Colhoun, Loai Shakerdi, Gregory M. Pastores, Roisin O'Flaherty, Radka Saldova
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: JIMD Reports, Vol 61, Iss 1, Pp 76-88 (2021)
Druh dokumentu: article
ISSN: 2192-8312
77401549
DOI: 10.1002/jmd2.12237
Popis: Abstract Background Classical galactosemia (CG) (OMIM #230400) is a rare disorder of carbohydrate metabolism, due to deficiency of galactose‐1‐phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long‐term complications, mainly cognitive, neurological, and female infertility remains poorly understood. Objectives This study investigated (a) the association between specific IgG N‐glycosylation biomarkers (glycan peaks and grouped traits) and CG patients (n = 95) identified from the GalNet Network, using hydrophilic interaction ultraperformance liquid chromatography and (b) a further analysis of a GALT c.563A‐G/p.Gln188Arg homozygous cohort (n = 49) with correlation with glycan features with patient Full Scale Intelligence Quotient (FSIQ), and (c) with galactose intake. Results A very significant decrease in galactosylation and sialylation and an increase in core fucosylation was noted in CG patients vs controls (P
Databáze: Directory of Open Access Journals
Externí odkaz: