Table 1.
Description of the series
| Disease | Number (%) | Gender* | Presentation* | |||
|---|---|---|---|---|---|---|
| Male | Female | Symptomatic | Asymptomatic | |||
| Neonatal | Late | |||||
| OTCD | 67 (64.4) | 26 (38.8) | 41 (61.2) | 9 (13.4) 7 males | 52(77.6) 15 males | 6 (9) 4 males |
| ASSD | 22 (21.1) | 13 (59) | 9 (61) | 14 (63.6) | 4 (18.2) | 4 (18.2) |
| ASLD | 10 (9.61) | 6 (60) | 4 (40) | 2 (20) | 6 (60) | 2 (20) |
| CPS1D | 2 (1.92) | 1 (50) | 1 (50) | 1(50) | 1 (50) | |
| ARG1D | 2 (1.92) | 2 (100) | 0 | 1 (50) | 1 (50) | |
| NAGSD | 1 (0.96) | 1 (100) | 0 | - | 1 (100) | - |
| Total | 104 (100) (98 families) | 49 (47.1) | 55 (52.9) | 27 (26) | 64 (61.5) | 13 (12.5) |
OTCD: ornithine transcarbamylase deficiency. ASSD: argininosuccinate synthetase deficiency; ASLD: argininosuccinate lyase deficiency; CPS1D: carbamoylphosphate synthetase 1 deficiency; ARG1D: arginase 1 deficiency; NAGSD: N-acetylglutamate synthase deficiency.
*Number of cases (%).