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

  • Henning Stockmann
  • Karen P. Coss
  • M. Estela Rubio-Gozalbo
  • Ina Knerr
  • Maria Fitzgibbon
  • Ashwini Maratha
  • James Wilson
  • Pauline Rudd
  • Eileen P. Treacy
Research Report
Part of the JIMD Reports book series (JIMD, volume 27)


Classical galactosaemia (OMIM #230400) is a rare disorder of carbohydrate metabolism caused by deficiency of the galactose-1-phosphate uridyltransferase enzyme (EC 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 < 0.001 and <0.01, respectively). Our data indicate that the use of IgG N-glycosylation galactose incorporation analysis may be now applicable for monitoring patient dietary compliance, determining prognosis and the evaluation of potential new therapies.


Assembly Defect Classical Galactosaemia Galactose Intake Dietary Galactose Galactosaemia Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.











Galactose-1-phosphate uridyltransferase


Hydrophilic interaction ultra-performance liquid chromatography



Funding for these studies was granted by the Irish Medical Research Charities Group (CFFH/TSCUH)/Health Research Board (No 2) was supported by the EU FP7 Research Framework Program ‘HighGlycan’ (Grant Reference No. 278535).


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  • Henning Stockmann
    • 1
  • Karen P. Coss
    • 2
  • M. Estela Rubio-Gozalbo
    • 3
  • Ina Knerr
    • 4
  • Maria Fitzgibbon
    • 5
  • Ashwini Maratha
    • 6
  • James Wilson
    • 7
  • Pauline Rudd
    • 1
  • Eileen P. Treacy
    • 5
    • 6
    • 8
  1. 1.National Institute for Bioprocessing Research and Training (NIBRT), Glycoscience Group, Mount Merrion, BlackrockDublin University CollegeDublinIreland
  2. 2.Department of Infectious Diseases, King’s College London, Faculty of Life Sciences and MedicineGuy’s HospitalLondonUK
  3. 3.Maastricht University Medical CentreMaastrichtThe Netherlands
  4. 4.National Centre for Inherited Metabolic DisordersChildrens University HospitalDublinIreland
  5. 5.Mater Misericordiae University HospitalDublinIreland
  6. 6.University College Dublin Clinical Research CentreDublinIreland
  7. 7.Centre for Population Health Sciences, Medical SchoolEdinburghScotland
  8. 8.Trinity CollegeDublinIreland

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