Table 1.
Clinical data for mucopolysaccharidosis IV A patients.
| ID | Height (cm) | Height Z-score | Weight (kg) | Age (yrs) | Sex | ERT | Genotype | Ambulatory status |
|---|---|---|---|---|---|---|---|---|
| 1 | 88.9 | –2.2 | 12.7 | 3.3 | M | N | n/a | F |
| 2 | 97 | –2.2 | 16.2 | 4.9 | F | N | n/a | F |
| 3 | 99.1 | –3.5 | 15.9 | 6.1 | F | Y | p.G301C/G301C | F |
| 4 | 86.4 | –8.7 | 13.2 | 9.1 | M | Y | n/a | P/N |
| 5 | 106.7 | –8.7 | 37.6 | 15.9 | F | N | n/a | P/N |
| 6 | 91.44 | –8.7 | 28.6 | 16.3 | F | N | P.ivs8 + 1G > c/ivs8 + 1G > c | P/N |
| 7 | 114.3 | –7.7 | 35.5 | 18 | F | N | p.S287L/L352P | P/N |
| 8 | 116.8 | –8.1a | 33.2 | 18.9 | M | Y | n/a | P/N |
| 9 | 113.8 | –8.5a | 34.7 | 21.0 | M | Y | n/a | F |
| 10 | 96.5 | –10.1a | 25.4 | 21.1 | F | N | n/a | P/N |
| 11 | 118 | –8.0a | 34.5 | 22.4 | M | N | p.G42E/P125L | F |
| 12 | 126 | –5.7a | 34.5 | 23.0 | F | N | n/a | P/N |
| 13 | 129.5 | –5.2a | 36.4 | 25.6 | F | N | p.S287L/L352P | F |
| 14 | 91.4 | –10.8a | 22.7 | 30.6 | F | N | p.M41K/M41K | P/N |
| 15 | 91.4 | –10.8a | 25.5 | 34.2 | F | N | n/a | F |
| 16 | 122 | –6.3a | 34.4 | 36.5 | F | N | n/a | F |
| 17 | 106.7 | –8.6a | 36.4 | 40.8 | F | N | n/a | P/N |
| 18 | 96.5 | –10.1a | 24 | 38.4 | F | N | n/a | F |
ERT = enzyme replacement therapy; F = full-time ambulator; P/N = partial or non-ambulator.
a
Based on age 20 years.