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| Subject | Age (y) | Sex | CPS1 Mutations | CPS1 Enzyme Activity | Age at Diagnosis | Peak NH3 at Diagnosis (μmol/L) |
|---|---|---|---|---|---|---|
| 1 | 25 | M | N/A | 0.38 umol/mg protein/hr | 17 months | N/A |
| (N: 1.65 ± 0.59) | ||||||
| 2 | 31 | F | c.267C>G (p.Y89X) | N/A | 27 years | 522 |
| c.2845G>A (p.A949T) | ||||||
| 3 | 5 | F | c.3101A>G (p.E1034G) | N/A | 15 months | 184 |
| c.3101A>G (p.E1034G) | ||||||
| 4 | 5 | M | c.2376G>C (p.M792I) | 0.9 μmol/g protein/min | 2 weeks | >500 |
| c.2376G>C (p.M792I) | (N: 5.6 ± 0.3) | |||||
| 5 | 5 | M | c.2548C>T (p.R850C) | N/A | 4 years | 150 |
| c.2882C>T (p.T961I) |
N/A = Not Available
