A specific serum lipid signature characterizes patients with glycogen storage disease type Ia

Alessandro Rossi; Margherita Ruoppolo; Roberta Fedele; Francesca Pirozzi; Carmen L. Rosano; Renata Auricchio; Daniela Melis; Pietro Strisciuglio; Maaike H. Oosterveer; Terry G. J. Derks; Giancarlo Parenti; Marianna Caterino

doi:10.1016/j.jlr.2024.100651

September 20, 2024Journal of Lipid ResearchOpen Access

A specific serum lipid signature characterizes patients with glycogen storage disease type Ia

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Key Points

To characterize the serum lipidomic profile of patients with glycogen storage disease type Ia and identify potential metabolic biomarkers.
Conducted serum lipidomic analysis in patients with glycogen storage disease type Ia compared to age- and sex-matched healthy controls and age-matched hypercholesterolemic controls.
Gathered biochemical markers of metabolic control and dietary information from patients with glycogen storage disease type Ia to evaluate lipid correlations.
Compared to healthy controls, patients with glycogen storage disease type Ia showed higher serum levels of lysophosphatidylcholine (FC 2.2, P < 0.0001), acyl-acyl-phosphatidylcholine (FC 2.1, P < 0.0001), ceramide (FC 2.4, P < 0.0001), bile acid (FC 0.7, P < 0.001), acylcarnitines (FC 0.7, P < 0.001), and cholesterol esters (FC 1.0, P < 0.001).
Patients exhibited significantly elevated diacylglycerol (FC 1.1, P < 0.0001 vs. healthy; FC 0.9, P < 0.01 vs. hypercholesterolemic) and triacylglycerol levels (FC 6.3, P < 0.0001 vs. healthy; FC 3.9, P < 0.01 vs. hypercholesterolemic).
Specific ceramide and hexosylceramide species correlated significantly with total cholesterol, triglycerides, alanine aminotransferase, insulin, and high-density lipoprotein cholesterol levels.

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Implication

Lipidomic profiling reveals altered circulating ceramides and acylglycerols in glycogen storage disease type Ia, highlighting novel metabolic biomarkers.

Abstract

Glycogen storage disease type Ia (GSDIa) is a rare, inherited glucose-6-phosphatase-α (G6Pase-α) deficiency-induced carbohydrate metabolism disorder. Although hyperlipidemia is a hallmark of GSDI, the extent of lipid metabolism disruption remains incompletely understood. Lipidomic analysis was performed to characterize the serum lipidome in patients with GSDIa, by including age- and sex-matched healthy controls and age-matched hypercholesterolemic controls. Metabolic control and dietary information biochemical markers were obtained from patients with GSDIa. Patients with GSDIa showed higher total serum lysophosphatidylcholine (Fold Change, (FC) 2.2, P < 0.0001), acyl-acyl-phosphatidylcholine (FC 2.1, P < 0.0001), and ceramide (FC 2.4, P < 0.0001) levels and bile acid (FC 0.7, P < 0.001), acylcarnitines (FC 0.7, P < 0.001), and cholesterol esters (FC 1.0, P < 0.001) than those of healthy controls, and higher di- (FC 1.1, P < 0.0001; FC 0.9, P < 0.01) and triacylglycerol (FC 6.3, P < 0.0001; FC 3.9, P < 0.01) levels than those of healthy controls and hypercholesterolemic subjects. Both total cholesterol and triglyceride values correlated with Cer (d16:1/22:0), Cer (d18:1/20:0), Cer (d18:1/20:0(OH)), Cer (d18:1/22:0), Cer (d18:1/23:0), Cer (d18:1/24:1), Cer (d18:2/22:0), Cer (d18:2/24:1). Total cholesterol also correlated with Cer (d18:1/24:0), Cer (d18:2/20:0), HexCer (d16:1/22:0), HexCer (d18:1/18:0), and Hex2Cer (d18:1/20:0). Triglyceridelevels correlated with Cer (d18:0/24:1). Alanine aminotransferase values correlated with Cer (d18:0/22:0), insulin with Cer (d18:1/22:1) and Cer (d18:1/24:1), and HDL with hexosylceramide (HexCer) (d18:2/23:0). These results expand on the currently known involvement of lipid metabolism in GSDIa. Circulating Cer may allow for refined dietary assessment compared with traditional biomarkers. Because specific lipid species are relatively easy to assess, they represent potential novel biomarkers of GSDIa.

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Cite This Study

Rossi et al. (2024) studied this question.

synapsesocial.com/papers/6aae1a435b986d1da357067d https://doi.org/10.1016/j.jlr.2024.100651

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A specific serum lipid signature characterizes patients with glycogen storage disease type Ia

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A specific serum lipid signature characterizes patients with glycogen storage disease type Ia

Key Points

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Implication

Abstract

Discussion

Cite This Study

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