Table 7 Clinical and biochemical data in relation to neurological outcome
From: Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases
N | With neurological impairment % (N) | Without neurological impairment % (N) | p | |
|---|---|---|---|---|
Disease | ||||
OTC | 65 | 44.6 (29, 7males) | 55.4 (36, 17 males) | 0.043* |
ASS | 21 | 66.7 (14) | 33.4 (7) | |
ASL | 10 | 80 (8) | 20 (2) | |
CPS1 | 2 | 100 (2) | 0 | |
ARG1 | 2 | 0 | 2 (100) | |
NAGS | 1 | 0 | 1 (100) | |
Presentation | ||||
Neonatal | 24 | 75 (18) | 25 (6) | 0.002* |
Late | 64 | 51.6 (33) | 48.4 (31) | |
Asymptomatic | 13 | 15.4 (2) | 84.6 (11) | |
Hepatic failure at diagnosis | ||||
Yes | 17 | 82.3 (14) | 17.7 (3) | 0.005* |
No | 82 | 45.1 (37) | 54.9 (45) | |
Laboratory test at diagnosis | Median (IQR) | Median (IQR) | ||
Ammonia (μmol/L) | 92 | 400 (200-690) | 174 (67.2-270) | < 0.001** |
Glutamine (μmol/L) | 77 | 1126 (891-1672) | 917 (751-1196) | 0.019** |