Table 1.
Basic description of the cohort
| Disease | Number (% of total) | Gender | |
|---|---|---|---|
| Female | Male | ||
| OTCD | 121 (58%) | 83 (69%) | 38 (31%) |
| ASSD | 43 (20%) | 22 (51%) | 21 (49%) |
| ASLD | 31 (15%) | 11 (36%) | 20 (64%) |
| ARG1D | 8 (4%) | 3 (38%) | 5 (62%) |
| HHH syndrome | 2 (1%) | 0 | 2 (100%) |
| CPS1D | 2 (1%) | 1 (50%) | 1 (50%) |
| NAGSD | 1 (1%) | 1 (100%) | 0 |
| Total | 208 (100%) | 121 (58%) | 87 (42%) |
OTCD ornithine transcarbamylase deficiency; ASSD argininosuccinate synthetase deficiency; ASLD argininosuccinate lyase deficiency; ARG1D arginase deficiency; HHH syndrome hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; CPS1D carbamoyl phosphate synthetase I deficiency; NAGSD N-acetylglutamate synthase deficiency