Background
Methods
Active surveillance of symptomatic individuals with urea cycle disorders
Comparison between this study and the E-IMD sample
Statistical analysis
Results
Description of the study sample
Country | Source | Reports (total) | Reports (eligible)a
|
---|---|---|---|
Germany | A or B | 58b
| 39 |
A | 52 | 35 | |
B | 27 | 25 | |
A and B | 21 | 21 | |
Austria | A or B | 10b
| 7 |
Switzerland | A or B | 11b
| 4 |
All countries | A or B | 79b
| 50 |
Clinical presentation and short-term outcome
Disease name | Patients (n) | HE total (n) | HE + C (n) |
---|---|---|---|
CPS1-D | 8 | 7 | 6 |
mOTC-D | 17 | 15 | 13 |
fOTC-D | 5 | 1 | 0 |
ASS-D | 10 | 3 | 3 |
ASL-D | 7 | 4 | 3 |
ARG1-D | 1 | 0 | 0 |
HHH syndrome | 1 | 0 | 0 |
Citrin-D | 1 | 0 | 0 |
Total | 50 | 30 | 25 |
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) |
Comparison between this study and the E-IMD sample
Disease name | E-IMD study Patients (n, %) | E-IMD study, age of diagnosis below 16 yearsa Patients (n, %) | This study Patients (n, %) |
---|---|---|---|
NAGS-D | 9 (2%) | 7 (2%) | 0 |
CPS1-D | 21 (5%) | 20 (5%) | 8 (16%) |
mOTC-D | 109 (24%) | 95 (25%) | 17 (34%) |
fOTC-D | 146 (32%) | 98 (26%) | 5 (10%) |
ASS-D | 87 (19%) | 82 (22%) | 10 (20%) |
ASL-D | 61 (13%) | 56 (15%) | 7 (14%) |
ARG1-D | 12 (3%) | 12 (3%) | 1 (2%) |
HHH syndrome | 11 (2%) | 9 (2%) | 1 (2%) |
Citrin-Db
| n/a | n/a | 1 (2%) |
Total | 456 (100%) | 379 (100%) | 50 (100%) |