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<p>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.</p>

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Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年7月1日

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  • Francesca Pirozzi,
  • Ramin Amiri,
  • Camilla Luni,
  • Alessandro Rossi,
  • Daniela Melis,
  • Roberta Fedele,
  • Carmen Rosano,
  • Pietro Strisciuglio,
  • Maaike H. Oosterveer,
  • Terry G. J. Derks,
  • Giancarlo Parenti,
  • Marianna Caterino,
  • Margherita Ruoppolo

摘要

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.