Table 1 Medical history, laboratory data and clinical manifestations of 24 patients with MPS IVA in Taiwan
From: Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
Patient | Gender | Age (yr) | Age at onset of symptoms (yr) | Age at diagnosis (yr) | Initial symptoms | Leukocye GALNS activity (μmol/g protein/hr)a | Urinary GAG (μg/mg Creatinine)b | Height (z score) | Weight (z score) | BMI (z score) | Ambulatory status | 6-MWT (m) | 3-MSCT (stairs/min) | Visual acuity right/left eye | Age of passed away (yr) | Cause of death |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 1.4 | 0.5 | 1 | gibbus, kyphosis | 0.03 | 519.1 | -0.54 | 0.00 | 0.46 | Walking | NA | NA | NA | ||
2 | M | 2.7 | 0.5 | 1.2 | kyphosis | 0.1 | 220.4 | -2.25 | -0.93 | -0.42 | Walking | NA | NA | NA | ||
3 | M | 5.3 | 0.4 | 1 | gibbus | 0.04 | NA | -3.84 | -2.54 | -1.34 | Wheelchair bound | NA | NA | NA | 6.8 | Atlantoaxial subluxation with spinal cord compression |
4 | F | 5.8 | 0.3 | 3.5 | pigeon chest, gibbus | 0.77 | NA | -3.84 | -2.00 | 1.66 | Walking | 183.9 | 37 | 0.6/0.6 | ||
5 | F | 7.2 | 2.4 | 2.5 | chest cage deformity | 0.51 | 445.6 | -4.00 | -1.56 | 0.51 | Walking | 219.3 | 15 | 0.2/0.3 | ||
6 | M | 7.3 | 1 | 2.5 | pigeon chest | 0.3 | 218.5 | -6.96 | -1.53 | 2.64 | Walking | 225.9 | 28 | 0.4/0.4 | ||
7 | F | 7.6 | 1.7 | 6.5 | pigeon chest | 0.09 | 191.5 | -2.68 | -1.28 | -0.14 | Walking | 360 | 55 | 0.4/0.4 | ||
8 | F | 7.7 | 2 | 8 | kyphosis, chest cage deformity | 0.4 | 228.5 | -5.63 | -2.18 | 0.29 | Bedridden | NA | NA | NA | 10.1 | Unknown |
9 | M | 9.6 | 0.5 | 5 | spinal deformity, pigeon chest | 0.5 | NA | -6.98 | -2.39 | -0.47 | Wheelchair bound | NA | NA | NA | 10.8 | Unknown |
10 | M | 12.1 | 2.1 | 9 | kyphosis, pigeon chest | 0.043 | 251.1 | -1.18 | -0.78 | -0.42 | Wheelchair bound | NA | NA | 0.6/0.6 | 19.4 | Airway impairment |
11 | F | 12.6 | 4 | 4 | kyphosis | 0.3 | 203.6 | -4.35 | -2.02 | -0.85 | Walking | 125.7 | 15 | 1.0/1.0 | ||
12 | M | 13.2 | 1.5 | 10 | kyphosis, chest cage deformity | 0.6 | 332.5 | -7.35 | -2.94 | -1.35 | Bedridden | NA | NA | NA | 16.8 | Unknown |
13 | F | 13.6 | 3 | 3.1 | kyphosis | 0.3 | 333.6 | -11.28 | -3.25 | 0.05 | Walking | 495.9 | 48 | 0.3/0.4 | ||
14 | M | 13.9 | 4.5 | 5 | kyphosis, chest cage deformity | 0.3 | 251.1 | -9.20 | -2.99 | -0.53 | Walking | 147 | 24 | NA | ||
15 | F | 14.7 | 4 | 4.3 | kyphosis, chest cage deformity | 0.07 | 323.0 | -10.36 | -3.67 | -0.89 | Bedridden | NA | NA | 0.3/0.4 | ||
16 | F | 14.8 | 0.4 | 0.4 | kyphosis, chest cage deformity | 0.1 | 179.4 | -12.25 | -3.49 | 0.11 | Walking | 140.7 | 37 | 0.3/0.9 | ||
17 | F | 15.1 | 0.5 | 15 | pigeon chest, prominent joints | 0.7 | 451.3 | -10.23 | -3.13 | -0.15 | Bedridden | NA | NA | NA | ||
18 | M | 15.8 | 0.6 | 5 | kyphosis | 0.5 | NA | -9.66 | -3.24 | -1.25 | Wheelchair bound | NA | NA | 0.5/0.6 | ||
19 | F | 15.8 | 5.2 | 6 | kyphosis, chest cage deformity | 0.4 | 333.6 | -12.27 | -3.93 | 0.03 | Walking | 360 | 19 | 0.5/0.4 | ||
20 | F | 16.6 | 3 | 6.6 | short stature, knocked knees | 0.172 | 222.8 | -12.36 | -4.06 | -0.74 | Wheelchair bound | NA | NA | NA | 20.0 | Airway impairment |
21 | F | 16.8 | 1 | 1.5 | kyphosis | 0.3 | NA | -10.45 | -3.07 | 0.48 | Walking | 72.9 | 27 | 0.6/1.0 | ||
22 | F | 18.4 | 4 | 14 | kyphosis, chest cage deformity | 0.5 | NA | -10.66 | -3.94 | -0.66 | Wheelchair bound | NA | NA | NA | 23.1 | Unknown |
23 | M | 25.7 | 0.5 | 4.5 | kyphosis | 0.4 | 118.6 | -10.46 | -2.96 | 0.16 | Walking | 256.5 | 37 | 0.5/0.1 | ||
24 | M | 29.4 | 4 | 17 | joint contracture except small joints | 0.11 | 103.6 | -11.54 | -3.16 | 0.31 | Wheelchair bound | NA | NA | NA | 30.3 | Airway impairment |
Mean | 12.6 | 2.0 | 5.7 | 0.3 | 273.8 | -7.51 | -2.54 | -0.10 | 235.3 | 31.0 | 17.2 | |||||
SD | 6.6 | 1.6 | 4.5 | 0.2 | 113.6 | 3.86 | 1.09 | 0.91 | 125.5 | 13.0 | 7.7 |