Patient | Sex | Consanguinity of parents | Age at first symptoms (years) | Age at diagnosis (years) | Age at initiation of ERT (years) | Duration of ERT (years) | Current age (years) | Enzyme level nmol/mg/17 h (45–240)a | Mutation |
---|---|---|---|---|---|---|---|---|---|
1 | M | Yes | 1 | 0.04 (2 weeks)b | 1.8 | 2.5 | 4.2 | 13 | Homozygous: c.535 C > T (p. P179S) |
2 | M | Yes | 1.1 | 1.5 | 2.1 | 4.2 | 6.3 | 0 | Homozygous: c.421 T > A (p.V141R) |
3 | F | Yes | 2 | 3.2 | 3.4 | 2.2 | 5.6 | 12 | Homozygous: c.107 T > G (p.L36P) |
4 | F | Yes | 2.5 | 3.7 | 4.0 | 2.9 | 6.9 | 0.1 | Homozygous: c.268C > T (p.R90W) |
5 | F | Yes | 2.8 | 4.9 | 5.2 | 2.8 | 8.0 | 0.1 | Homozygous: c.922 T > C (p.C308R) |
6 | M | Yes | 1.9 | 3.8 | 5.2c | 3.0 | 8.2 | 18.8 | Homozygous: c.655A > T (p.R219X) |
7 | F | Yes | 1.5 | 5.4 | 7.1 | 4.6 | 11.7 | 13 | Homozygous: c.421 T > A (p.W141R) |
8 | F | Yes | 3 | 16.1 | 16.5 | 4.4 | 20.9 | 0 | Homozygous: c.922 T > C (p.C308R) |
9 | M | Yes | 7 | 15.6 | 16.6 | 4.5d | 21.1 | 26 | Homozygous: c.1417C > T (p.Q473X) |
10 | F | Yes | 0.8 | 5.9 | 39.5 | 4.7 | 44.2 | 0 | Homozygous: c.1348G > A (p.E450K) |