Characteristics of study group
| Patient no. | Age (y) | Gender | Weight (kg) | Height (cm) | Enzyme activity (μmol/uur/g Hb) | Mutations |
|---|---|---|---|---|---|---|
| n.d., not detectable; n.p., not performed. | ||||||
| 1 | 18.0 | M | 64 | 175 | 0.2 | Q188R/Q252H |
| 2 | 14.6 | M | 53 | 182 | n.d. | n.p. |
| 3 | 12.8 | M | 42 | 156 | 1.4 | n.p. |
| 4 | 10.8 | F | 28 | 132 | n.d. | Q188R/Q188R |
| 5 | 9.3 | F | 27 | 133 | 1.3 | Q188R/Q188R |
| 6 | 7.3 | F | 19 | 114 | n.d. | Q188R/Q188R |
| 7 | 7.1 | F | 20 | 129 | 4.5 | L195P/K229N |
| 8 | 7.1 | F | 20 | 129 | 2.7 | L195P/K229N |
| 9 | 4.3 | F | 15 | 103 | 1.2 | L195P/? |
| 10 | 3.4 | M | 14 | 95 | n.d. | Q188R/L195P |
| 11 | 2.5 | M | 13 | 86 | n.d. | Q188R/L195P |