Pirozzi Francesca, Amiri Ramin, Luni Camilla, Rossi Alessandro, Melis Daniela, Fedele Roberta, Rosano Carmen, Strisciuglio Pietro, Oosterveer Maaike H, Derks Terry G J, Parenti Giancarlo, Caterino Marianna, Ruoppolo Margherita
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
Department of Civil, Chemical, Environmental and Materials Engineering (DICAM), University of Bologna, Bologna, Italy.
Sci Rep. 2025 Jul 1;15(1):20658. doi: 10.1038/s41598-025-06272-7.
Glycogen storage disease type Ia (GSDIa) is an inherited disorder of carbohydrate metabolism. Patients present with excessive storage of glycogen and fat in the liver and kidneys and are potentially at risk of developing long-term complications. Currently, the mainstay of treatment is highly tailored dietary regimens aimed at improving metabolic control. In the present study, to better elucidate the mechanisms potentially involved in the development of long-term complications, a mass spectrometry-based strategy was employed for an in-depth characterization of the serum proteomic and metabolomic profile of n.12 GSDIa patients. The detection of differential abundance of highly liver-specific circulating proteins and choline-related metabolites in patients provides new insights into the extent of liver damage and dysregulation of lipid metabolism in GSDIa. Specifically, the differential abundance of serum aldolase B and its positive correlation with traditional liver function markers supports its role as a potential biomarker for long-term monitoring of GSDIa liver injury.
Ia型糖原贮积病（GSDIa）是一种遗传性碳水化合物代谢紊乱疾病。患者肝脏和肾脏中糖原和脂肪过度蓄积，并有发生长期并发症的潜在风险。目前，主要治疗方法是高度个性化的饮食方案，旨在改善代谢控制。在本研究中，为了更好地阐明可能与长期并发症发生相关的机制，采用了基于质谱的策略对12例GSDIa患者的血清蛋白质组和代谢组谱进行深入表征。患者中高度肝脏特异性循环蛋白和胆碱相关代谢物差异丰度的检测，为GSDIa中肝脏损伤程度和脂质代谢失调提供了新的见解。具体而言，血清醛缩酶B的差异丰度及其与传统肝功能标志物的正相关支持了其作为GSDIa肝损伤长期监测潜在生物标志物的作用。
