Therapy is currently limited to symptomatic treatments, such as anti-epileptic drugs for epilepsy. Pyridoxine, a dephosphorylated form of vitamin B6, is effective to control the seizures in some affected individual with IGD. (Uptake of vitamin B6 into neurons which is necessary for GABA biosynthesis, is mediated by an alkaline phosphatase (ALP), a GPI-APs, which dephosphorylates pyridoxal phosphate. In case of IGDs, expression of ALP is decreased, which causes deficiency of GABA biosynthesis in neurons, leading to seizures. Folate receptor is also GPI-AP and decreased expression in choroid plexus causes central folate deficiency. Thus, supplementation of folinic acid is tried and reported to be effective to some patients (Messina M et al. 2022 JIMD Rep.)
PIGO