Patient No | Sex | Onset age | Current/death age | Type | CITa (μmol/L) | GLNa (μmol/L) | Orotic acida (mmol/molCr) | Uracila (mmol/molCr) | Peak AMONa (μmol/L) | ALTa (U/L) |
---|---|---|---|---|---|---|---|---|---|---|
1b | M | 7d | 8m | EO, NBS | 1.71 | 3.25 | 425.42 | 8.60 | 300 | 32 |
2 | M | 3d | 7d | EO | ND | ND | ND | ND | 346 | 18 |
3 | M | 20d | 24d | EO | ND | ND | ND | ND | ND | ND |
4 | M | 3d | 7d | EO | 3.09 | 33.54 | 231.20 | 151.20 | 637 | ND |
5 | M | 9d | 44d | EO | 4.05 | ND | ND | ND | 815 | ND |
6 | M | 3d | 7d | EO | 2.48 | 80.60 | 267.60 | 53.26 | 700 | 18 |
7 b | M | 5d | 3.1y | EO | 3.24 | 15.15 | 22.28 | 8.70 | 50 | 172 |
8 | M | 1d | 5d | EO | 2.18 | 24.79 | 127.33 | 90.78 | > 500 | 15 |
9 b | M | 3d | 7d | EO,NBS | 4.80 | 43.73 | 1638.32 | 61.91 | 780 | ND |
10 | M | 3d | 7d | EO | 4.96 | ND | 214.77 | 9.89 | 1015 | ND |
11 | M | 2d | 6d | EO | 3.25 | 45.78 | 423.71 | 256.54 | > 500 | ND |
12 | M | 2d | 2d | EO | 3.40 | ND | ND | ND | 657 | 648 |
13 | M | 1d | 7d | EO | ND | ND | ND | ND | 1340 | ND |
14 | M | 56y | 56y | LO | 8.83 | 5.84 | 827.28 | 28.69 | 1152 | 23 |
15 b | M | 1.8y | 2.3y | LO,NBS | 3.07 | 27.20 | ND | 17.93 | 180 | 42 |
16 | M | 8m | 2.5y | LO | ND | ND | ND | ND | 300 | ND |
17 | M | 2y | * | LO | 5.74 | 10.83 | 65.68 | 29.17 | 218 | ND |
18 b | M | 4m | 9.7y | LO | 6.83 | 44.39 | 228.79 | 311.67 | 350 | 28 |
19 | M | 36y | 39y | LO | 3.87 | 17.93 | ND | ND | 427 | 36 |
20 | M | 4.3y | 4.3y | LO | 21.74 | 16.37 | 312.35 | 248.40 | 114 | 244 |
21 b | M | 1.4y | 4.7y | LO | 5.62 | 9.92 | 413.21 | 143.06 | 351 | 55 |
22 b | M | 2.6y | 4.4y | LO | ND | ND | ND | ND | 244 | ND |
23 b | M | 1.4y | 2.4y | LO | 25.43 | 5.61 | 137.00 | 6.07 | 114 | 40 |
24 | M | 9.7y | 9.9y | LO | 8.58 | 11.23 | 96.00 | 42.90 | 120 | 69 |
25 | M | 10m | 1.4y | LO | 2.28 | ND | ND | ND | 131 | 327 |
26 | M | 3y | 10.8y | LO | 7.48 | 22.23 | 48.31 | 165.31 | 289 | 119 |
27 | M | 7m | 2.2y | LO | 1.10 | 14.28 | 543.54 | 130.02 | 392 | 462 |
28 | M | 1y | 8.7y | LO | 7.09 | 14.21 | 1.85 | 19.79 | 45 | 26 |
29 | M | 1.2y | 8.1y | LO | 3.86 | 15.48 | 455.63 | 133.00 | 187 | 48 |
30 | M | 8m | 1.8y | LO | 13.60 | ND | 82.82 | 339.11 | 335 | 1782 |
31 | M | 2.1y | 3y | LO | 12.77 | 13.53 | 11.60 | 17.53 | 257 | 116 |
32 | M | 5y | 5y | LO | 2.80 | ND | 172.80 | 27.80 | 2500 | 19.7 |
33 b | M | 3.4y | 4y | LO | 18.62 | 14.04 | 77.30 | 62.90 | 447 | 228.9 |
34 | M | 3 m | 4.5y | LO | 2.43 | 12.81 | 1.79 | 5.72 | 265 | 105 |
35 b | F | 1d | 1m | EO,NBS | 2.88 | 21.31 | 282.12 | 34.56 | 2000 | ND |
36 | F | 27d | 8.8y | EO | 14.83 | 29.73 | 197.00 | 51.80 | 410 | 2602 |
37 | F | 6y | 9.6y | LO | 19.24 | 14.22 | 198.45 | 205.32 | 194 | 509 |
38 | F | 2.5y | 4.5y | LO | 15.75 | 13.50 | 202.00 | 67.50 | 190 | 665 |
39 | F | 5.6y | 5.6y | LO | 12.60 | 11.65 | 189.20 | 50.04 | 500 | 759 |
40 | F | 2y | * | LO | 14.07 | 18.96 | 141.39 | 35.73 | ND | ND |
41 | F | 1.5y | 2y | LO | 8.81 | 9.87 | 48.92 | 71.86 | 103 | 508 |
42 | F | 2.3y | 5.1y | LO | 9.70 | 12.78 | 43.50 | 251.00 | 1300 | 1330 |
43 b | F | No | 4m | AS,PT | 6.61, | ND | 224.31 | ND | 59 | 28 |
44 | F | 2.3y | 3.8y | LO | 11.84 | 4.93 | 43.83 | 131.88 | 120 | 215 |
45 | F | 2y | 2.8y | LO | 7.68 | 32.68 | ND | ND | 256 | ND |
46 | F | 2.4y | 3.9y | LO | 13.44 | 61.66 | 673.28 | 161.53 | 385 | 380 |
47 | F | 6m | 3.8y | LO | 12.68 | 20.81 | 1435.31 | 153.89 | 387 | 214 |
48 | F | 29y | 29y | LO | 8.41 | 18.16 | 38.75 | 51.55 | 421 | ND |
49 | F | 1.5y | 8.4y | LO | 15.90 | 23.87 | 457.51 | 112.32 | 133 | ND |
50 b | F | 2.3y | 2.8y | LO | 15.66 | 37.02 | 251.06 | 42.70 | 300 | ND |
51 | F | 3y | 13.2y | LO | 10.91 | 31.70 | 356.42 | 65.03 | 286 | 422 |
52 b | F | 1.5y | 3.3y | LO | 1.77 | ND | ND | ND | 350 | 1455.00 |
53 | F | 1.1y | 3.2y | LO | 4.27 | ND | 469.38 | 261.67 | 260 | 72 |
54 | F | 1.8y | 9.3y | LO | 5.94 | 15.18 | 204.05 | 83.30 | 216 | 415 |
55 b | F | 10m | 2.6y | LO | ND | ND | ND | ND | 315 | 885 |
56 | F | 3.5y | 5.1y | LO | 9.53 | 17.52 | 38.21 | 6.75 | 234 | 687 |
57 | F | 1.3y | 7y | LO | 8.21 | 26.24 | 227.12 | 441.98 | 189 | 139 |
58 | F | 1y | 2.8y | LO | 4.21 | 21.26 | 4.53 | ND | 480 | 97 |
59 | F | 6y | 6.7y | LO | 10.40 | 42.54 | 199.30 | ND | 170 | 338.2 |
60 | F | 2y | 8.4y | LO | 15.56 | 17.72 | 305.73 | 48.85 | 278 | 964 |
61 | F | 4y | 9.9y | LO | 5.69 | 23.48 | 19.93 | 338.64 | > 500 | 839 |
62 | F | 1.1y | 2.6y | LO | 3.17 | 14.11 | 77.65 | 29.97 | 300 | 303 |
63 | F | 1.4y | 7.3y | LO | 8.82 | 49.73 | 691.94 | 559.21 | 197 | 1639 |
64 | F | 1y | 7.3y | LO | 3.70 | 5.18 | 55.46 | 156.57 | 383 | 49 |
65 | F | 9.3y | * | LO | 7.44 | 56.51 | 106.88 | 61.87 | 268 | ND |
66 b | F | 1.7y | 3.3y | LO | 11.54 | 20.67 | 129.10 | 107.17 | > 500 | 623 |
67 | F | 5.5y | 5.7y | LO | 7.57 | 19.38 | 308.70 | 78.95 | 231 | 311 |
68 | F | 2y | * | LO | 6.94 | 29.11 | 213.13 | 164.51 | 256 | 388 |
69 | F | 1.5y | 5.7y | LO | 12.37 | 24.27 | 2.72 | 71.62 | 320 | 111 |