Skip to main content

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**
  1. Neurological outcome was correlated with the type of UCD disease, type of presentation, presence of liver failure at onset and ammonia and glutamine level at diagnosis. The level of statistical significance was obtained using Pearson chi-square* for qualitative variables and the Mann-Whitney U test** for quantitative variables.