| Patients (n) | Median (Range) (μmol/L) |
---|
Disease name |
CPS1-D | 8 | 2333 (350–5400) |
mOTC-D | 17 | 1714 (110–8160) |
fOTC-D | 5 | 247 (73–498) |
ASS-D | 10 | 422 (40–1266) |
ASL-D | 7 | 320 (36–1471) |
ARG1-D | 1 | 63 (n/a) |
HHH syndrome | 1 | 60 (n/a) |
Citrin-D | 1 | 44 (n/a) |
Total | 50 | 935 (36–8160) |
Onset typea
|
EO | 28 | 1622 (199–8160) |
LO | 7 | 247 (60–498) |
Asymptomatic | 10 | 68 (36–110) |
Unknowna
| 5 | n/a |
Initial hyperammonemia |
HE | 5 | 320 (150–1383) |
HE + C | 25 | 1945 (298–8160) |
- Peak plasma ammonia levels are different between EO and LO groups (U-test, p < 0.0001) as well as between EO or LO and asymptomatic patients, respectively (U-test, p < 0.001). Note that plasma ammonium concentrations are age-dependent: Newborns (arterial cord blood), 50–159 μmol/L; infants and children, 24–48 μmol/l; adults, 11–55 μmol/L (adapted from [38]). Peak plasma ammonia levels differed between groups AS, HE and HE + C [ART ANOVA: F(2,37) = 36.63; p < 0.001]. Contrasts with Tukey p-value adjustment revealed significant differences between all three groups: AS vs. HE (p = 0.024), AS vs. HE + C (p < 0.001) and HE vs. HE + C (p = 0.005). EO, early onset; HE, hyperammonemic encephalopathy; HE + C, HE with coma; LO, late onset; n/a, not applicable
-
aFive patients in whom clinical information was not available since they have been exclusively reported by metabolic laboratories