Table 1.
Sociodemographic and diagnostic variables in a population of adult patients with MPS IVA in Spain
| Variable | Value (N = 33) |
|---|---|
| Age, median (IQR), years | 32 (20.5–40.5) |
| Sex, n (%) | |
| Men | 17 (51.5) |
| Women | 16 (48.5) |
| Height, median (range) (cm) | 118 (106–136) |
| Men | 126 (113.7–142.5) |
| Women | 116 (105.2–124.7) |
| Weight, median (range) (kg) | 34 (28–40) |
| Men | 35.5 (30.9–49.7) |
| Women | 31 (25.4–36.7) |
| Phenotype | |
| Classical | 18 (54.5) |
| Intermediate | 11 (33.3) |
| Non-classical | 4 (12.1) |
| BMI (kg/m2) | |
| Classical phenotype | 21.36 (18.23–25.30) |
| Intermediate phenotype | 24.68 (23.36–31) |
| Non-classical phenotype | 20.03 ( 16.31–26) |
| Consanguinity history, n (%) | 3 (9) |
| Patients with affected siblings, n (%) | 12 (36.6) |
| Age at diagnosis, years (IQR) | 5.5 (2–12.6) |
| GAGs, mg/mmol creatinine (IQR) | 22.60 (6.81–29.01) |
| Common GALNS mutations, n (%) | |
| c.1156C > T | 8 (24.2) [6 patients were homozygous] |
| c.901G > T | 4 (12) |
| c.761A > G | 2 (6) [both patients were homozygous] |
| First symptom at diagnosis, n (%) | |
| Bone dysplasia | 8 (24.2) |
| Kyphoscoliosis | 5 (15.1) |
GAGs, glycosaminoglycans (keratan sulphate and chondroitin-6-sulphate); IQR, interquartile range; MPS, mucopolysaccharidosis