Table 1. Biochemical results in patients analyzed.

Analyte	Patient 2	Patient 1	Reference ranges
Serum uric acid	306	311	210–450
Uric/creatinine ratio	Normal	Normal
PRPP synthetase (nmol/mg/min)	<0.0005	<0.002	1.20–1.60
Orotic acid	3.5 (high)	N/A	0.1–2.0
Purines urine (mmol/l)
Adenosine	0.3 (low)	N/A	0–1.6
Adenylosuccinic acid	0.02 (low)	N/A	0–0.72
Deoxyinosine	0 (low)	N/A	0–0.08
Inosine	0.2 (low)	N/A	0.1–1.7
Hypoxanthine	3 (low)	N/A	2–32