Effective treatment requires lifelong pharmacologic supplements of PLP; the rarity of the disorder has prevented further studies to evaluate the optimal PLP dose. The several local guidelines recommend the dose of 30 – 50 mg/kg/day. To prevent exacerbation of clinical seizures and/or encephalopathy during an acute illness, the daily dose of PLP may be increased for several days or add PN to the current PLP therapy. In all PNPO‐deficient patients, liver derangement occurred after long‐term administration of PLP or after large dose with substantial improvement after dose adjustment (in most of the cases) which indicates that liver toxicity is probably related to PLP administration and should be carefully monitored during PLP therapy.
Prenatal PGD option or prenatal testing for families at risk may be performed. Maternal pyridoxine or PLP supplementation during pregnancy might be another option, and facilitate initiation of treatment at birth . However, further studies are required to evaluate the safety , the effectiveness and the optimum dose of PLP during pregnancy.
PNPO