Table 1.
Clinical features and results of CSF 5-MTHF analysis
| Subject 1 | Subject 2 | Subject 3 | Subject 4 | Subject 5 | Subject 6 | Subject 7 | |
|---|---|---|---|---|---|---|---|
| Sex | F | F | F | F | M | M | F |
| Age (years) | 8 | 9 | 8 | 10 | 7 | 2 | 15 |
| Normal early development | No | Until 24 months | Until 18 months | No | Until 8 months | No | No |
| Developmental delay | Severe delay | Severe delay | Severe delay | Profound delay | Profound delay | Severe delay | Severe delay |
| Regression | + | + | + | + | + | + | + |
| Seizures | + | + | + | + | + | + | − |
| Dyskinesia | + | + | + | + | + | + | + |
| Angelman-like facial features | + | − | + | − | − | − | − |
| Rett manifestations | − | − | − | + | − | − | − |
| CSF 5-MTHF levels at diagnosisa | 34 | 30 | 35 | 20 | 33 | 37 | 37 |
| CSF 5-MTHF levels during FA treatmenta | 113 | 175 | 76 | 81 | 73 | 90 | 120 |
a
Normal range 40–150 nM.
ND: not determined; FA: folinic acid