Patients | n | Male | Female | ||
---|---|---|---|---|---|
n | % | n | % | ||
Diagnosed prenatally and treated at birth | 2 | 1 | 0.7 | 1 | 0.7 |
Detected by newborn screening | 15 | 7 | 4.7 | 8 | 5.4 |
Treated at birth | 10 | 6 | 4.0 | 4 | 2.7 |
Treated after onset | 5 | 1 | 0.7 | 4 | 2.7 |
Clinically diagnosed | 132 | 73 | 49.0 | 59 | 39.6 |
Death | 5 | 2 | 1.3 | 3 | 2.0 |
Regular follow-up | 103 | 60 | 40.3 | 43 | 28.9 |
Lost to follow-up | 24 | 11 | 7.4 | 13 | 8.7 |
Total | 149 | 81 | 54.4 | 68 | 45.6 |