Table 2.
Detailed summary of all our patients with the different LSD.
| Group | Diagnosis | No. pts | Age at most recent echo (years) |
|---|---|---|---|
| MPS | MPS I: Hurler | 7 | 2, 2, 4, 6, 10, 11, 13 |
| MPS I: Scheie | 1 | 16 | |
| MPS II: Hunter | 4 | 13, 15, 16, 19 | |
| MPS IIIa/b | 4 | 7, 11, 16, 19 | |
| MPS IVa | 6 | 3, 9, 11, 11, 12, 13 | |
| MPS VI | 2 | 9, 10, 17 | |
| Total | 25 | ||
| AFD | AFD | 8 | 6, 7, 8, 10, 11, 13, 13, 17 |
| oLSD | Pompe disease (PD) | 1 | 4 |
| Danon disease (DD) | 1 | 15 | |
| ML II: I-cell disease (ICD) | 2 | 2, 4 | |
| ML III | 2 | 12, 27 | |
| Total | 6 |
MPS = mucopolysaccharidosis; AFD = Anderson Fabry disease; ML = mucolipidosis; PD = Pompe disease; DD = Danon disease; ICD = I-cell disease.