Table 2.
Urine purine analysis. Targeted quantitative analysis of purines revealed significant elevation of succinyladenosine in the urine of F1, F3-2 and F3-3, confirming the semi-quantitative metabolomic findings in plasma and consistent with a diagnosis of ADSL deficiency.
| Metabolite | Normal rangea (0–2 yrs) |
Normal rangea (3–99 yrs) |
F1 valuea | F3-1 valuea | F32 valuea | F3-3 valuea |
|---|---|---|---|---|---|---|
| Xanthine | 0–59 | 0–47.3 | 13.7 | 0.2 | 7.2 | 4.6 |
| Inosine | 0–4.8 | 0–4.8 | 3.8 | 0.4 | 4.1 | 2.1 |
| Guanosine | 0–7.3 | 0–5.3 | 0.6 | 0.2 | 1.7 | 1.8 |
| Adenine | 0–2.9 | 0–1.3 | 0.0 | 0.0 | 0.0 | 2.0 |
| Adenosine | 0–3.8 | 0–3.4 | 6.5 | 0.3 | 7.2 | 6.3 |
| Deoxyadenosine | 0–4.1 | 0–3.2 | 5.4 | 0.4 | 2.0 | 7.2 |
| Hypoxanthine | 0–30.9 | 0–38.6 | 12.2 | 4.1 | 33.7 | 17.2 |
| Succinyladenosine | 0–30.2 | 0–34.6 | 281.9 | 1.0 | 123.8 | 96.9 |
a
Millimoles/mol creatinine.