Table 2 Clinical, and biochemical findings of mild patients with MPS IVA in this study
From: Delayed diagnosis of mild mucopolysaccharidosis type IVA
Family 1 | Family 2 | Family 3 | Family 4 | Family 5 | Family 6 | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Patient (Pt) | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 |
Sex | female | male | male | male | male | female | female | male | female | male | female | female | male |
Age at onset (years) | 10.0 | 8.0 | 8.0 | 5.0 | 7.5 | 9.0 | 5.0 | 2.0 | 3.6 | NA | 1.0 | 8.0 | 8.0 |
Age at diagnosis (years) | 13.5 | 9.7 | 9.7 | 10.8 | 8.2 | 17.0 | 9.0 | 12.2 | 3.9 | 7.8 | 6.0 | 13.0 | 9.0 |
GALNS activity (nmol/17 h/mg protein)† | 22.40 | 17.43 | 16.90 | 4.22 | 3.37 | 3.57 | 2.08 | 1.47 | 2.00 | 7.13 | 7.39 | 4.84 | NA |
Age at last observation (years) | 14.2 | 10.3 | 10.3 | 12.7 | 10.6 | 17.0 | 9.0 | 13.5 | 4.9 | 9.8 | 6.0 | 14.0 | 10.0 |
Height at last observation, cm (SD) | 151.0 (− 1.3) | 141.0 (− 0.2) | 147.0 (0.7) | 142.0 (− 1.8)) | 143.0 (0.1) | 150.4 (− 1.8) | 132.5 (0.3) | 146 (− 2.2) | 109.6 (− 0.4) | 133.0 (− 1.2) | 106.8 (− 2.2) | 150.5 (− 0.6) | 129.5 (− 1.7) |
Weight at last observation, kg (SD) | 49.0 (0.1) | 33.0 (− 0.5) | 34.0 (− 0.3) | 54.6 (0.8) | 46.0 (0.9) | 47.5 (− 0.7) | 36.8 (0.7) | 35.6 (− 2.0) | 15.8 (− 1.7)) | 30.0 (− 0.8) | 17.2 (− 1.5) | 50.1 (0.2) | 28.4 (− 1.2) |