Table 1.
Patient characteristics/biochemical parameters at diagnosis, in total and according to enzyme deficiency (exposed population)
| OTC (n = 57) | CPS1 (n = 15) | NAGS (n = 4) | ORNT1 (n = 3) | Total (n = 79) | |
|---|---|---|---|---|---|
| Female, n (%) | 35 (61.4) | 5 (33.3) | 2 (50.0) | 2 (66.7) | 44 (55.7) |
| Male, n (%) | 22 (38.6) | 10 (66.7) | 2 (50.0) | 1 (33.3) | 35 (44.3) |
| Age, years, median (range) | 1.2 (0.0–46.0) | 0.0 (0.0–37.2) | 0.0 (0.0–0.1) | 8.6 (0.0–9.0) | 0.9 (0.0–46.0) |
| Neonatal presentation (diagnosed 0–30 days after birth), n (%) | 16 (28.1) | 10 (66.7) | 4 (100.0) | 1 (33.3) | 31 (39.2) |
| Late-onset presentation (diagnosed 1 month after birth), n (%) | 41 (71.9) | 5 (33.3) | 0 | 2 (66.7) | 48 (60.8) |
| Diagnosis after a decompensation episode, n (%) | 36 (63.2) | 14 (93.3) | 3 (75.0) | 0 | 53 (67.1) |
| Diagnosis following risk assessment in relatives/family members | 9 (15.8%) | 1 (6.7%) | 1 (25.0%) | 1 (33.3%) | 12 (15.2) |
| Diagnosis in patients with symptoms suggestive of UCD (out of decompensation) | 12 (21%) | 0 (0.0%) | 0 (0.0%) | 2 (66.6%) | 14 (17.7) |
| Family history of UCD, n (%) | 22 (38.6) | 3 (20.0) | 1 (25.0) | 0 (0.0) | 26 (32.9) |
| Family consanguinity, n (%) | 2 (3.5) | 4 (26.7) | 4 (100.0) | 1 (33.3) | 11 (13.9) |
| Biochemical parameters, median (range) | |||||
| Plasma concentrations | |||||
| Ammonia, µmol/L |
95.5 (28.5–1180.0) [n = 40] |
123.5 (57.5–700.0) [n = 14] |
64.0 (58.0–392.0) [n = 3] |
217.5 (104.0–331.0) [n = 2] |
104.0 (28.5–1180.0) [n = 59] |
| Citrulline, µmol/L |
13.0 (2.0–147.0) [n = 34] |
4.5 (0.0–39.0) [n = 13] |
2.8 (0.0–5.5) [n = 2] |
52.0 (52.0–52.0) [n = 1] |
10.5 (0.0–147.0) [n = 50] |
| Arginine, µmol/L |
33.0 (5.0–166.0) [n = 35] |
32.0 (14.5–109.0) [n = 12] |
124.5 (40.0–209.0) [n = 2] |
87.0 (87.0–87.0) [n = 1] |
34.0 (5.0–209.0) [n = 50] |
| Glutamine, µmol/L |
873.8 (458.0–3941.5) [n = 38] |
958.0 (472.0 − 2000.0) [n = 14] |
1301.0 (695.0 − 1907.0) [n = 2] |
1311.0 (1311.0–1311.0) [n = 1] |
931.0 (458.0–3941.5) [n = 55] |
| Valine, µmol/L |
120.0 (53.0–236.0) [n = 30] |
95.5 (67.0–221.0) [n = 13] |
133.5 (129.0–138.0) [n = 2] |
197.0 (197.0–197.0) [n = 1] |
118.0 (53.0–236.0) [n = 46] |
| Isoleucine, µmol/L |
36.0 (9.0–61.0) [n = 31] |
26.0 (13.0–74.0) [n = 13] |
43.0 (39.0–47.0) [n = 2] |
68.0 (68.0–68.0) [n = 1] |
36.0 (9.0–74.0) [n = 47] |
| Urine orotic acid, mmol/mol/creatinine |
8.4 (1.9–1381.0) [n = 18] |
1.8 (1.8–1.8) [n = 1] |
2.5 (2.5–2.5) [n = 1] |
473.0 (473.0–473.0) [n = 1] |
5.8 (1.8–1381.0) [n = 21] |