Table 1 the clinical features of MPS II patients and their leukocyte IDS activity
Features | Family 1 | |
|---|---|---|
Patient 1 | Patient 2 | |
MPS II genotype | p.R88P | p.R88P |
IDS activity nmol/h/mg protein | 2 | 5 |
Prenatal diagnosis | 1st cousins | 1st cousins |
Age at diagnosis (year/month) | 3 years | 3 years |
Age of onset (year/month) | 18 months | 18 months |
Sex | Male | Male |
Growth retardation | Marked | Marked |
Macroglossia | Marked | Marked |
Macrocarinia | Marked | Marked |
Hepatosplenomegaly | Marked | Marked |
skeletal deformities | severe | severe |
Other features | teeth small and poorly located deafness | teeth small and poorly located deafness |
Mental retardation | severe | severe |
IDS activity nmol/h/mg protein | 2 | 5 |