Table 3.
Times at disease manifestation and diagnosis in the North American and European samples
| Total Median [Q1, Q3]; n | NAGS-D Median [Q1, Q3]; n | CPS1-D Median [Q1, Q3]; n | mOTC-D Median [Q1, Q3]; n | fOTC-D Median [Q1, Q3]; n | ASS-D Median [Q1, Q3]; n | ASL-D Median [Q1, Q3]; n | ARG1-D Median [Q1, Q3]; n | HHH syndr. Median [Q1, Q3]; n | CITR-D Median [Q1, Q3]; n | ||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Age at last visit [years] | NA EU |
17.7 [7.2, 33.4]; 530 11.8 [5.6, 21.5]; 450 |
26.6 [24.4, 48.5]; 4 8.5 [0.9, 16.6]; 7 |
8.2 [1.5, 33.9]; 12 9.8 [7.0, 13.3]; 12 |
15.1 [5.2, 28.4]; 91 10.9 [4.1, 18.0]; 107 |
29.3 [13.8, 41.0]; 242 19.9 [9.9, 33.4]; 158 |
9.2 [4.2, 15.8]; 66 8.3 [3.9, 15.0]; 81 |
8.9 [4.0, 20.1]; 82 9.3 [5.2, 15.4]; 60 |
16.9 [5.8, 23.2]; 21 8.1 [5.6, 10.7]; 13 |
28.8 [10.5, 53.5]; 9 11.9 [9.2, 24.6]; 12 |
5.8 [0.6, 10.9]; 3 n/a |
| Age at first symptoms EO [days] | NA EU |
2 [1, 4]; 113 3 [2, 4]; 113 |
1 [1, 1]; 1 2 [2, 4]; 4 |
2 [1, 2]; 6 3 [2, 3]; 6 |
2 [1, 2]; 31 3 [2, 5]; 20 |
4 [2, 10]; 8 3 [3, 4]; 5 |
2 [1, 4]; 37 2 [2, 3; 47 |
3 [2, 7]; 27 3 [2, 4]; 29 |
11 [7, 14]; 2 n.i. |
1 [1, 1]; 1 4 [2, 6]; 2 |
n.i. n/a |
| Age at first symptoms LO [days] | NA EU |
731 [335, 2557]; 197 585 [300, 1813]; 180 |
731 [731, 731]; 2 3650 [3650, 3650] 1 |
5844 [3287, 11323]; 5 795 [495, 1140]; 4 |
913 [396, 3287]; 38 630 [300, 2190]; 50 |
731 [365, 1826]; 102 720 [365, 2160]; 83 |
304 [244, 411]; 8 390 [150, 540]; 14 |
365 [122, 700]; 21 210 [150, 1080]; 15 |
761 [183, 1461]; 14 815 [34, 1440]; 6 |
1461 [883, 17897]; 5 450 [274, 630]; 7 |
106 [29, 183]; 2 n/a |
| Age at diagnosis EO [days] | NA EU |
4 [3, 8]; 109 4 [3, 9]; 116 |
3653 [3653, 3653]; 1 5 [2, 34]; 4 |
3 [2, 6]; 5 10 [4, 540]; 6 |
3 [2, 4]; 30 4 [3, 9]; 20 |
472 [64, 1141]; 8 9 [3, 13]; 5 |
4 [3, 6]; 34 5 [3, 7]; 48 |
5 [3, 7]; 27 4 [3, 9]; 30 |
396 [8, 1826]; 3 270 [270, 270]; 1 |
2 [2, 2]; 1 48 [6, 90]; 2 |
n.i. n/a |
| Age at diagnosis LO [days] | NA EU |
1424 [417, 4018]; 221 730 [360, 2190]; 185 |
10775 [731, 20819]; 2 3650 [3650, 3650]; 1 |
5844 [4383, 11323]; 5 1650 [870, 2100]; 4 |
1461 [548, 4018]; 39 725 [330, 2400]; 50 |
1826 [700, 4383]; 119 945 [510, 2555]; 84 |
533 [320, 2845]; 8 330 [240, 570]; 15 |
731 [17, 2192]; 29 210 [61, 1080]; 18 |
1096 [731, 2922]; 13 1308 [35, 2190]; 6 |
1461 [883, 17897]; 5 639 [450, 780]; 7 |
365 [365, 365]; 1 n/a |
| Age at diagnosis ASx [days] | NA EU |
8766 [30, 12419]; 143 3650 [21, 12045]; 69 |
n.i. n.i. |
n.i. 90 [90, 90]; 1 |
4383 [852, 11323]; 14 2190 [15, 13140]; 15 |
10592 [7488, 13332]; 96 10768 [3650, 12775]; 38 |
6 [4, 13]; 14 3 [3, 10]; 7 |
26 [5, 594]; 16 19 [5, 2190]; 3 |
30 [30, 30]; 1 21 [9, 36]; 4 |
15341 [15341, 15341]; 1 25 [25, 25]; 1 |
7 [7, 7]; 1 n/a |
| Diagnostic delay EO [days] | NA EU |
1 [0, 4]; 103 1 [0, 3]; 113 |
3652 [3652, 3652]; 1 1 [0, 30]; 4 |
1 [1, 2]; 5 7 [2, 535]; 6 |
1 [0, 2]; 29 0 [0, 3]; 20 |
460 [58, 1134]; 8 5 [0, 10]; 5 |
0 [0, 3]; 33 1 [0, 3]; 47 |
1 [0, 4]; 24 1 [0, 2]; 29 |
1100 [389, 1812]; 2 n.i. |
1 [1, 1]; 1 44 [0, 88]; 2 |
n.i. n/a |
| Diagnostic delay LO [days] | NA EU |
61 [0; 731]; 195 0 [0, 300]; 173 |
10044 [0, 20089]; 2 0 [0, 0]; 1 |
0 [0, 0]; 5 570 [30, 1305]; 4 |
0 [0, 274]; 38 0 [0, 98]; 48 |
228 [0, 731]; 102 30 [0, 365]; 79 |
15 [0, 527]; 8 8 [0, 90]; 14 |
0 [0, 761]; 21 0 [0, 330]; 15 |
0 [0; 122]; 13 1 [0, 986]; 5 |
0 [0, 0]; 5 244 [0, 330]; 7 |
183 [183, 183]; 1 n/a |
| Age of death [days] | NA EU |
7 [4, 481]; 37 13 [4, 35]; 22 |
n.i. n.i. |
60 [4, 229]; 5 4 [4, 4]; 2 |
5 [4, 17]; 23 13 [8, 29]; 14 |
4923 [2590, 10243]; 4 2245 [1960, 2530]; 2 |
5 [5, 5]; 1 902 [7, 1797]; 2 |
7 [4, 10]; 2 3787 [4, 7570]; 2 |
10240 [3842, 16638]; 2 n.i. |
n.i. n.i. |
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; EO, early onset; EU, Europe; fOTC-D, female ornithine transcarbamylase deficiency; HHH syndr., Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; LO, late onset; mOTC-D, male ornithine transcarbamylase deficiency; NA, North America; NAGS-D, N-acetylglutamate synthase deficiency; n.i., no information on this variable entered in the databases; UCD, urea cycle disorder; n/a, not applicable since disease was not included in the European study sample. Patients in NA and EU without information on particular variables are counted as missing data and are not included in the table.