TABLE 2.
Excerpt of significantly altered metabolites in GSDI patients compared to controls. The full table including fragments and adducts can be found in Table S1
| Feature | Ion | Metabolite | Fold change | Corr. P value |
|---|---|---|---|---|
| Energy metabolism | ||||
| 204.12292 | M + H | Acetylcarnitine | 1.47 | 7.98E‐08 |
| 145.01257 | M − H | α‐Ketoglutarate | 4.44 | 8.23E‐10 |
| 132.0748 | M + H | Creatine | 3.73 | 5.93E‐24 |
| 114.06205 | M + H | Creatinine | 0.63 | 2.35E‐17 |
| 87.00701 | M − H | Pyruvate | 3.7 | 3.17E‐34 |
| 117.01756 | M − H | Succinate | 0.66 | 5.99E‐16 |
| 148.06057 | M + H | Glutamate a | 4.67 | 3.34E‐27 |
| 162.10734 | M + H | Carnitine | 1.24 | 3.48E‐04 |
| Urea cycle, C1 and amino acid metabolism | ||||
| 175.11881 | M + H | Arginine | 0.42 | 6.51E‐33 |
| 176.10215 | M + H | Citrulline | 0.68 | 4.56E‐03 |
| 133.09458 | M + H | Ornithine | 0.5 | 3.87E‐17 |
| 147.07446 | M + H | Glutamine | 0.72 | 1.75E‐09 |
| 189.12762 | M + H | N‐Methylarginine b | 0.22 | 3.56E‐20 |
| 118.05844 | M + H | Guanidinoacetate a | 0.43 | 2.36E‐21 |
| 106.04542 | M + H | Serine | 0.62 | 6.03E‐16 |
| 150.05564 | M + H | Methionine | 0.63 | 1.22E‐16 |
| 136.04212 | M + H | Homocysteine | 3.94 | 7.87E‐26 |
| 76.03368 | M + H | Glycine | 0.78 | 5.93E‐03 |
| Purines and pyrimidines | ||||
| 268.09561 | M + H | Adenosine | 0.3 | 9.73E‐03 |
| 244.08633 | M + H | Cytidine | 3.19 | 2.06E‐19 |
| 115.04332 | M + H | Dihydrouracil | 0.73 | 4.41E‐03 |
| 249.0859 | M + H | Thymidine | 0.36 | 2.67E‐05 |
| 127.04128 | M + H | Thymine | 0.81 | 2.40E‐02 |
| 139.04438 | M + H | Urocanate | 0.68 | 8.90E‐03 |
| 151.0209 | M − H | Xanthine | 7.52 | 5.47E‐13 |
| Others | ||||
| 245.08444 | M + H | Biotine | 4.35 | 6.03E‐19 |
a
Several metabolites occupy multiple metabolic functions and therefore cannot be uniquely allocated to one specific category.
b
Metabolites that were not in the internal library and were confirmed by fragment pattern matching.