TABLE 1.
Baseline demographics and disease characteristics (n = 16)
| Characteristic | Value |
|---|---|
| Age at screening (years) | |
| Mean (SD), median (range) | 15 (8.5), 15 (5‐31) |
| Sex | |
| Female | 11 (69%) |
| Race | |
| White | 11 (69%) |
| Other | 5 (31%) |
| Height | |
| <Fifth centile | 8 (50%) |
| <10th centile | 12 (75%) |
|
Weight <fifth centile |
1 (6%) |
| <10th centile | 3 (19%) |
| Alanine aminotransferase (U/L) | |
| Mean (SD), median (range) | 47 (40.0), 34 (15‐171) |
| Aspartate aminotransferase (U/L) | |
| Mean (SD), median (range) | 42 (13.0), 38 (25‐63) |
| Ammonia (μmol/L) | |
| Mean (SD), median (range) | 41.1 (21.50), 38.0 (9.0‐77.0) |
|
History of Hyperammonemia (median number in past year, range) |
44% (0, 0‐6) |
| Ammonia scavenger medication use | 14 (88%) |
| Arginine (μmol/L) | |
| Mean (SD), median (range) | 373.4 (91.31), 389.3 (237.8‐565.8) |
| Dietary protein restriction + EAA supplementation | 16 (100%) |
| Seizure history | 7 (44%) |