Table 1.
Comparison between the previously reported patients with MEGDHEL syndrome and mutations in SERAC1, and the patient described here
| Patient | Literature | ||
|---|---|---|---|
| N | % | ||
| Consanguinity | − | 44/66 | 67 |
| Psychomotor regression | + | 55/61 | 90 |
| Age at regression | 6 mo | birth to 4 yo (median 12 mo) | |
| Spasticity | + | 59/72 | 82 |
| Dystonia | + | 60/73 | 82 |
| Deafness | + | 54/68 | 79 |
| Failure to thrive | + | 21/21 | 100 |
| Epilepsy | + | 29/74 | 39 |
| Microcephaly | + | 10/10 | 100 |
| Neonatal liver dysfunction | NA | 38/70 | 54 |
| Optic atrophy | + | 14/57 | 25 |
| Leigh‐like syndrome on brain MRI | + | 65/66 | 98 |
| 3‐MGA‐uria | + | 72/73 | 99 |
| Range (mmol/mol of creatinine) | >20 | 20–420 | |
| Lactic acidosis | + | 62/72 | 86 |
| OXPHOS dysfunction M | − | 11/20 | 55 |
| OXPHOS dysfunction F | − | 3/11 | 27 |
| Positive filipin staining in F | + | 10/14 | 71 |
F, fibroblast; M, muscle; mo, months old; MRI, magnetic resonance imaging; N, number; NA, not available; OXPHOS, oxidative phosphorylation; Yo, years old; +, present; −, absent. Literature data obtained from Maas et al.