Table 1 Patients characteristics
From: 2-deoxy-2-[18]fluoro-D-glucose PET/CT (18FDG PET/CT) may not be a viable biomarker in Pompe disease
Patient number | 1 | 2 | 3 | 4 |
Age (years) | 51 | 59 | 27 | 45 |
Years of ERT | 1.5 | 6.5 | 7 | 0 |
Sex | M | M | M | M |
Age at diagnosis (years) | 50 | 45 | 20 | 44 |
Mutation | c.(336-13 T > G); (1927G > A) | IVC-45 T > G; 536bpDel (IVS16 + 102_IVS17 + 31) | c.32-13 T > G; c.1128_1129delinsC | c-32-13 T > G; c.2214G > A |
6-min walk test (m) | 484 | 204 | 201 | 510 |
Wheelchair bound | No | No | No | No |
Respiratory failure | Yes | Yes | Yes | No |