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Table 2 Adult case-reports of late onset urea cycle disorders

From: Management of late onset urea cycle disorders—a remaining challenge for the intensivist?

Ref Sex Age Acute symptoms Maximal ammonia Brain edema Defective enzyme Acute treatment Dialysis Outcome
1 [34] M 48 Coma, headache, S, N, V 497 Yes ORNT1 B Yes F
2 [33] F 19 N, V ND Yes OTC Other No D
3 [32] F 52 BA, headache, S, N, V 330 No NAGS B No F
4 [31] M 69 N, V 293 No OTC Other Yes F
5 [30] M 66 Coma, BA, S 494 Yes OTC Other Yes F
6 [29] M 60 Coma 158 Yes ARG B No F
7 [7] M 67 S ND Yes OTC Other No F
8 [28] F 52 Coma 684 No OTC Other No F
9 [1] F 39 Coma, N, V 288 No OTC B Yes F
10 [27] K 62 Behavior, S 154 No CITRIN Other No F
11 [26] F 73 Coma, Behavior 147 No CITRIN Other Yes F
12 [6] F 59 Coma 280 No NAGS B No F
13 [25] M 31 BA 598 No CITRIN Other No F
14 [24] F 48 BA, headache 500 No CITRIN B + LT No F
15 [23] M 38 BA, headache, N, V 434 No NAGS PB No F
16 [22] M 28 Coma 683 Yes CPS1 B + PB No D
17 [21] M 49 Coma 254 No OTC B Yes D
18 [20] F 35 BA, headache 224 No CPS1 B + PB No F
19 [19] M 59 Coma, S, N, V 228 No OTC B Yes F
20 [18] F 23 Headache, V 477 No OTC B + PB No F
21 [17] M 47 S, V 541 Yes OTC Yes F
22 [16] M 49 S, N 157 No CPS1 B + LT No F
23 [15] M 45 S 628 Yes OTC No D
24 [14] F 31 Other 179 No OTC PB No F
25 [13] M 17 S, N, V, Coma 787 Yes OTC B Yes D
26 [12] M 63 S, coma 1447 Yes OTC B + PB Yes D
27 [11] F 28 Coma 281 No OTC B + PB Yes F
28 [10] F 60 S, BA, Coma, N, V 256 No CPS1 B + PB Yes D
29 [9] F 25 N, V 150 No CITRIN PB No F
30 [53] M 36 BA 696 No OTC B + PB No F
31 [54] F 18 S,N,V 23 No ARG Other No F
32 [55] F 40 BA, Coma 300 No CITRIN Other No F
33 [56] M 40 BA, Coma 390 No OTC B Yes F
34 [57] F 21 Coma, N, V 510 No OTC B No F
35 [58] M 34 BA, Coma 2210 Yes CITRIN Other No D
36 [59] F 21 S, BA, Coma 698 Yes CITRIN LT No F
37 [60] M 31 BA 396 Yes CITRIN Other No D
38 [61] M 31 Other 263 No CITRIN LT No F
39 [62] M 41 BA 483 No CITRIN B Yes F
40 [63] F 40 S, BA 234 No CIRTIN Other No F
  1. M: male; F: female; S: seizure; N: nausea; V: vomiting, BA: behavioral abnormalities; ORNT1: ornithine transporter 1; OTC: ornithine transcarbamylase; NAGS: N-Acetylglutamate synthase; ARG: arginase; CITRIN: aspartate/glutamate carrier; CPSI: Carbamyl phosphate synthetase 1; B: benzoate; PB: phenylbutyrate; LT: liver transplantation; D: died; F: favorable