Table 2.
Phenotypic comparison between patients in this study and previously reported cases
| This study | Chung et al.3 | Brea-Calvo et al.2 | Sondheimer et al.4 | Bosch et al.5 | Lu et al.6 | |
|---|---|---|---|---|---|---|
| Number of subjects | 11 | 6 | 5 | 1 | 2 | 2 |
| Female-to-male ratio | 7:4 | 6:0 | 3:2 | 0:1 | 1:1 | 1:1 |
| Age of presentation | Birth to 8 months | Birth to day 1 | Birth to 6 h | 1 day | 4–9 years | 1–2 months |
| Neonatal onset | 5/11 (45%) | 6/6 (100%) | 4/5 (80%) | 1/1 (100%) | 0/2 (0%) | 2/2 (100%) |
| Infantile onset | 6/11 (54%) | 0/6 (0%) | 1/5 (20%) | 0/1 (0%) | 0/2 (0%) | 0/2 (0%) |
| Childhood onset | 0/11 (0%) | 0/6 (0%) | 0/5 (0%) | 0/1 (0%) | 2/2 (100%) | 0/2 (0%) |
| Respiratory distress | 5/11 (45%) | 6/6 (100%) | a4/4 (100%) | 1/1 (100%) | — | 2/2 (100%) |
| Cardiomyopathy | 6/11 (54%) | 5/6 (83%) | 2/5 (40%) | 1/1 (100%) | — | 1/2 (50%) |
| Hypotonia | 7/11 (64%) | a5/5 (100%) | 2/5 (40%) | 1/1 (100%) | — | — |
| Dystonia | 2/11 (18%) | — | — | — | — | 2/2 (100%) |
| Seizures | 8/11 (73%) | 3/6 (50%) | 3/5 (60%) | 1/1 (100%) | 2/2 (100%) | 2/2 (100%) |
| Lactic acidosis | 10/11 (91%) | 4/6 (67%) | 4/5 (80%) | 1/1 (100%) | — | 2/2 (100%) |
| Cerebellar atrophy | 6/11 (54%) | a4/5 (80%) | 3/5 (60%) | — | — | 2/2 (100%) |
| Basal ganglia | 5/11 (45%) | — | — | — | — | 1/2 (50%) |
aLacking information from one patient