Treatable vitamin-responsive epilepsy.
| Indication | Dose |
|---|---|
| Pyridoxine (B6)-dependent epilepsy | B6 15-30 mg/kg/d BID (up to 500 mg/day) or (50-100) mg IV with simultaneous EEG recording. |
| Pyridoxal 5’-phosphate-dependent epilepsy | Pyridoxal 5’-phosphate (30–50 mg/kg TID) |
| Folinic acid-responsive seizures | Folinic acid (3–5 mg/kg/dose) |
| Biotinidase deficiency | Biotin (10 - 20 mg/day) |
| Biotin-thiamine-responsive basal ganglia disease | Biotin (5–10 mg/kg/dose) and thiamine (300–900 mg/day) |
| Cerebral creatine deficiency syndromes | GAMT deficiency: Oral creatine monohydrate (dosage of 400-800 mg/kg/day TID or more) Ornithine: 100 mg/kg/day AGAT deficiency: Oral creatine monohydrate (dosage of 400-800 mg/kg/day TID or more) CRTR deficiency: Creatine monohydrate 100-200 mg/kg/day TID Arginine 400 mg/kg/day TID Glycine 150 mg/kg/day TID |
| GAMT - guanidinoacetate methyltransferase, AGAT - L-arginine:glycine amidinotransferase deficiency, CRTR - creatine transporter deficiency | |