At this time, there is no targeted therapy for this condition. Referral in Neurology and antiepileptic drugs to control seizures may be necessary.
Regarding potential therapies for difficult-to-control seizures, if applicable, one could consider Vitamin B6 (100 mg per day), which helps with many defects in this pathway. More experimentally, based on the folate receptor being GPI-anchored, one could consider trying Folinic acid (1 mg/kg/day per day) and also Mefolinate (30 mg PO BID). Each of these three medications should be tried on separate weeks to assess the effect of the medicine, keeping a seizure journal and ideally performing EEGs before and after any drug. If these are tested, please inform us of their efficacy. Please also see this publication reporting the benefit of adding folinic acid for PGAP2 deficiency: https://onlinelibrary.wiley.com/doi/full/10.1002/jmd2.12347
PIGT