Stockmann Henning, Coss Karen P, Rubio-Gozalbo M Estela, Knerr Ina, Fitzgibbon Maria, Maratha Ashwini, Wilson James, Rudd Pauline, Treacy Eileen P
National Institute for Bioprocessing Research and Training (NIBRT), Glycoscience Group, Mount Merrion, Blackrock, Dublin University College, Dublin, Ireland.
Department of Infectious Diseases, King's College London, Faculty of Life Sciences and Medicine, Guy's Hospital, London, UK.
JIMD Rep. 2016;27:47-53. doi: 10.1007/8904_2015_490. Epub 2015 Sep 30.
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 < 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.
经典型半乳糖血症（OMIM #230400）是一种罕见的碳水化合物代谢紊乱疾病，由半乳糖-1-磷酸尿苷转移酶（EC 2.7.7.12）缺乏引起。包括女性的神经、认知和生育问题在内的长期并发症的病因仍知之甚少。半乳糖血症患者数量相对较少，且缺乏经过验证的生物标志物，这对确定预后、监测疾病进展以及对新疗法的反应构成了重大挑战。我们报告了一种改进的自动机器人亲水相互作用超高效液相色谱N-聚糖分析方法，用于测量IgG N-聚糖半乳糖掺入率，该方法应用于监测成年经典型半乳糖血症患者。我们分析了40名受影响的成年患者和81名匹配的健康对照。半乳糖血症患者与对照组之间的G0/G1和G0/G2掺入率存在显著差异（分别为p < 0.001和<0.01）。我们的数据表明，IgG N-糖基化半乳糖掺入分析现在可能适用于监测患者的饮食依从性、确定预后以及评估潜在的新疗法。
