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Table 1 Clinical biochemical findings at presentation in 69 patients with OTCD

From: Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

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
  1. M, male; F, female; d, days; m, months; y, years; EO, early-onset; LO, late-onset; AS, asymptomatic; NBS, identified by newborn screening; PT, identified by prenatal testing; CIT, blood citrulline; GLN, blood glutamine; AMON, blood ammonia; ND, not detected
  2. “*” donates loss to follow-up
  3. aNormal reference values: CIT 7–35 umol/L; GLN 6–30 umol/L; Urine orotic acid 0–1.5 mmol/molCr; Uracil: 0–7 mmol/molCr; AMON 9–30 μmol/L; ALT 9-52U/L; severe elevation of ALT was defined as > 175 U/L in females, > 200 U/L in males
  4. bThe patients who underwent expanded newborn screening by tandem mass spectrometry
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