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

Henning Stockmann; Karen P. Coss; Estela Rubio Gozalbo; Ina Knerr; Maria Fitzgibbon; Ashwini Maratha; James Wilson; Pauline Rutt; Eileen P. Treacy

doi:10.1007/8904_2015_490

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

Henning Stockmann, Karen P. Coss, Estela Rubio Gozalbo, Ina Knerr, Maria Fitzgibbon, Ashwini Maratha, James Wilson, Pauline Rutt, Eileen P. Treacy^*

^*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic

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 galactosaemia. We analysed 40 affected adult patients and 81 matched healthy controls. Significant differences were noted between the G0/G1 and G0/G2 incorporation ratios between galactosaemia patients and controls (p?

Original language	English
Title of host publication	JIMD Reports
Editors	Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke, Verena Peters
Place of Publication	Berlin Heidelberg
Publisher	Springer
Pages	47-53
Volume	27
ISBN (Electronic)	978-3-662-50409-3
ISBN (Print)	978-3-662-50408-6
DOIs	https://doi.org/10.1007/8904_2015_490
Publication status	Published - 2016

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Stockmann, H., Coss, K. P., Rubio Gozalbo, E., Knerr, I., Fitzgibbon, M., Maratha, A., Wilson, J., Rutt, P., & Treacy, E. P. (2016). IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia. In E. Morava, M. Baumgartner, M. Patterson, S. Rahman, J. Zschocke, & V. Peters (Eds.), JIMD Reports (Vol. 27, pp. 47-53). Springer. https://doi.org/10.1007/8904_2015_490

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title = "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 galactosaemia. We analysed 40 affected adult patients and 81 matched healthy controls. Significant differences were noted between the G0/G1 and G0/G2 incorporation ratios between galactosaemia patients and controls (p?",

author = "Henning Stockmann and Coss, {Karen P.} and {Rubio Gozalbo}, Estela and Ina Knerr and Maria Fitzgibbon and Ashwini Maratha and James Wilson and Pauline Rutt and Treacy, {Eileen P.}",

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doi = "10.1007/8904_2015_490",

language = "English",

isbn = "978-3-662-50408-6",

volume = "27",

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Stockmann, H, Coss, KP, Rubio Gozalbo, E, Knerr, I, Fitzgibbon, M, Maratha, A, Wilson, J, Rutt, P & Treacy, EP 2016, IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia. in E Morava, M Baumgartner, M Patterson, S Rahman, J Zschocke & V Peters (eds), JIMD Reports. vol. 27, Springer, Berlin Heidelberg, pp. 47-53. https://doi.org/10.1007/8904_2015_490

IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia. / Stockmann, Henning; Coss, Karen P.; Rubio Gozalbo, Estela et al.
JIMD Reports. ed. / Eva Morava; Matthias Baumgartner; Marc Patterson; Shamima Rahman; Johannes Zschocke; Verena Peters. Vol. 27 Berlin Heidelberg: Springer, 2016. p. 47-53.

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic

TY - CHAP

T1 - IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia

AU - Stockmann, Henning

AU - Coss, Karen P.

AU - Rubio Gozalbo, Estela

AU - Knerr, Ina

AU - Fitzgibbon, Maria

AU - Maratha, Ashwini

AU - Wilson, James

AU - Rutt, Pauline

AU - Treacy, Eileen P.

PY - 2016

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N2 - 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 galactosaemia. We analysed 40 affected adult patients and 81 matched healthy controls. Significant differences were noted between the G0/G1 and G0/G2 incorporation ratios between galactosaemia patients and controls (p?

AB - 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 galactosaemia. We analysed 40 affected adult patients and 81 matched healthy controls. Significant differences were noted between the G0/G1 and G0/G2 incorporation ratios between galactosaemia patients and controls (p?

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DO - 10.1007/8904_2015_490

M3 - Chapter

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SN - 978-3-662-50408-6

VL - 27

SP - 47

EP - 53

BT - JIMD Reports

A2 - Morava, Eva

A2 - Baumgartner, Matthias

A2 - Patterson, Marc

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A2 - Zschocke, Johannes

A2 - Peters, Verena

PB - Springer

CY - Berlin Heidelberg

ER -

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

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