Table 2.
Case mix, onset type, and mode of diagnosis in the North American and European samples
| All Diagnoses n (%) | NAGS-D n (%) | CPS1-D n (%) | mOTC-D n (%) | fOTC-D n (%) | ASS-D n (%) | ASL-D n (%) | ARG1-D n (%) | HHH syndr. n (%) | CITR-D n (%) | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Total without Liver Transplant (LTx) | NA EU |
530 (100) 450 (100) |
4 (0.8) 7 (1.6) |
12 (2.3) 12 (2.7) |
91 (17.2) 107 (23.8) |
242 (45.7) 158 (35.1) |
66 (12.5) 81 (18.0) |
82 (15.5) 60 (13.3) |
21 (4.0) 13 (2.9) |
9 (1.7) 12 (2.7) |
3 (0.6) n/a |
| Male | NA EU |
184 (34.7) 217 (48.2) |
1 (25.0) 3 (42.9) |
6 (50.0) 8 (66.7) |
91 (100) 107 (100) |
n/a n/a |
32 (48.5) 44 (54.3) |
39 (47.6) 36 (60.0) |
8 (38.1) 8 (61.5) |
5 (55.6) 11 (91.7) |
2 (66.7) n/a |
| Female | NA EU |
346 (65.3) 233 (51.8) |
3 (75.0) 4 (57.1) |
6 (50.0) 4 (33.3) |
n/a n/a |
242 (100) 158 (100) |
34 (51.5) 37 (45.7) |
43 (52.4) 24 (40.0) |
13 (61.9) 5 (38.5) |
4 (44.4) 1 (8.3) |
1 (33.3) n/a |
| LTx patients | NA EU |
90 (100) 25 (100) |
n.i. n.i. |
12 (13.3) 6 (24.0) |
32 (35.6) 13 (52.0) |
7 (7.8) 3 (12.0) |
19 (21.1) 3 (12.0) |
17 (18.9) n.i. |
3 (3.3) n.i. |
n.i. n.i. |
n.i. n/a |
| Age of onset | |||||||||||
| Early onset (EO) | NA EU |
123 (23.2) 119 (26.4) |
2 (50.0) 4 (57.1) |
6 (50.0) 7 (58.3) |
34 (37.4) 21 (19.6) |
8 (3.3) 5 (3.2) |
38 (57.6) 48 (59.3) |
31 (37.8) 31 (51.7) |
3 (14.3) 1 (7.7) |
1 (11.1) 2 (16.7) |
n.i. n/a |
| Late onset (LO) | NA EU |
226 (42.6) 195 (43.3) |
2 (50.0) 1 (14.3) |
5 (41.7) 4 (33.3) |
39 (42.9) 52 (48.6) |
119 (49.2) 91 (57.6) |
9 (13.6) 15 (18.5) |
30 (36.6) 18 (30.0) |
15 (71.4) 7 (53.8) |
5 (55.6) 7 (58.3) |
2 (66.7) n/a |
| Asymptomatic (ASx) | NA EU |
157 (29.6) 74 (16.4) |
n.i. n.i. |
1 (8.3) 1 (8.3) |
14 (15.4) 17 (15.9) |
99 (40.9) 40 (25.3) |
19 (28.4) 8 (9.9) |
21 (25.6) 3 (5.0) |
1 (4.8) 4 (30.8) |
1 (11.1) 1 (8.3) |
1 (33.3) n/a |
| Presentation leading to diagnosis | |||||||||||
| Prenatal testing (PT) | NA EU |
29 (5.5) 7 (1.6) |
n.i. n.i. |
1 (8.3) n.i. |
7 (7.7) 1 (0.9) |
13 (5.4) 4 (2.6) |
3 (4.5) 1 (1.2) |
5 (6.1) 1 (1.7) |
n.i. n.i. |
n.i. n.i. |
n.i. n/a |
| Newborn screening (NBS) | NA EU |
64 (12.1) 22 (4.8) |
n.i. n.i. |
1 (8.3) 1 (8.3) |
1 (1.1) 1 (0.9) |
1 (0.4) 0 (0.0) |
25 (37.9) 7 (8.6) |
30 (36.6) 8 (13.3) |
4 (19.0) 4 (30.8) |
n.i. 1 (8.3) |
2 (66.7) n/a |
| Symptomatic (SX) | NA EU |
277 (52.3) 310 (68.9) |
3 (75.0) 7 (100.0) |
10 (83.3) 10 (83.3) |
65 (71.4) 77 (72.0) |
105 (43.4) 91 (57.6) |
33 (50.0) 65 (80.2) |
39 (47.6) 45 (75.0) |
14 (66.7) 7 (53.8) |
7 (77.8) 8 (66.7) |
1 (33.3) n/a |
| Family History (FH) | NA EU |
146 (27.5) 97 (21.5) |
n.i. n.i. |
n.i. 1 (8.3) |
13 (14.3) 21 (19.6) |
118 (48.8) 59 (37.3) |
4 (6.1) 6 (7.4) |
7 (8.5) 5 (8.3) |
2 (9.5) 2 (15.4) |
2 (22.2) 3 (25.0) |
n.i. n/a |
ARG1-D, arginase 1 deficiency; ASx, asymptomatic; ASL-D, argininosuccinate lyase deficiency; ASS-D, argininosuccinate synthetase deficiency; CITR-D, citrin deficiency; CPS1-D, carbamylphosphate synthetase 1 deficiency; EU, Europe; fOTC-D, female ornithine transcarbamylase deficiency; HHH syndr., Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; LTx, liver transplantation; mOTC-D, male ornithine transcarbamylase deficiency; NA, North America; n/a, not applicable (since disease was not included in the European study sample); NAGS-D, N-acetylglutamate synthase deficiency; NBS, newborn screening; n.i., no information in the databases; SX, Selective metabolic investigation after onset of symptoms; UCD, urea cycle disorder. Patients in NA and EU without information on particular variables are counted as missing data and are not included in the table.