Table 1 Description of the 7 MPS IVA patientsyr: years, mo: months
Features | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 |
|---|---|---|---|---|---|---|---|
Consanguinity of the parents/degree | 1st degree | 1st degree | 3rd degree | 3rd degree | 1st degree | 1st degree | 1st degree |
Age of diagnosis (yr/mo) | 3 | 8 | 3 | 5/4 | 4/5 | 7/7 | 7 |
Age of onset (yr/mo) | 18 months | 14 months | 2 | 16 months | 2/3 | 18 mo | 3 |
Sex | Male | Female | Male | Female | Female | Female | Female |
Age (yr/mo) | 15 | 13 | 9/8 | 8 | 11/7 | Died at 7yr | 14 |
Height cm (SD) | 1 m (-4.8) | 96 (-6) | 95 (-5.9) | 90 (-6.6) | 96 (-8.4) | 98 (-5) | 122 (-4) |
Weight kg (SD) | 17 (-3.2) | 14 (-3.3) | 16 (-3.1) | 15 (-2.3) | 16 (-3) | 15 (-2.3) | 26 (-2.3) |
GALNS assay (nmoles/h/mg prot) | 0.04 | 0.02 | 0.03 | Not done | 0.005 | 0.06 | 0.07 |