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Potential parameters for identification of FH PV carriers in EDTA plasma
| Metabolite/Ratio | Patient with FH PV (n = 1) | Patients without FH-PVa (n = 49) |
|---|---|---|
| Asparagine (ng/mL) | 7535 | 5142.8 (935.0-7011.2) |
| Asparagine/2HG | 74.8 | 24.6 (6.1-58.2) |
| Fumarate/2HG | 1.4 | 0.6 (0.2-1.1) |
| Malate/2HG | 5.6 | 2.8 (1.0-5.0) |
| Glutamine/2HG | 1011.5 | 406.4 (93.9-899.4) |
Abbreviations: 2HG, 2-hydroxyglutarate; FH, fumarate hydratase; PV, pathogenic variant.
a Median and range in parentheses.
