Table 2.
Adult case-reports of late onset urea cycle disorders
| N° | 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 |
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