Folinic acid-responsive seizures

Folinic acid-responsive seizures (also sometimes called folinic acid-responsive epilepsy) is a rare brain disorder that causes seizures in newborns and young infants that can be treated with a vitamin-like supplement called folinic acid. The condition is closely related to — and in many cases the same as — pyridoxine-dependent epilepsy (PDE), a disorder caused by changes in a gene called ALDH7A1. In both conditions, the brain does not process certain natural chemicals properly, which leads to repeated, hard-to-control seizures starting very early in life, often within the first days or weeks after birth. The seizures in this condition are unusual because they do not respond well to standard anti-seizure medications. However, when folinic acid (a form of the B-vitamin folate) is given, seizures often improve or stop completely. Some children also benefit from a low-lysine diet and vitamin B6 (pyridoxine or pyridoxal phosphate) supplementation. Without early treatment, the ongoing seizures can cause serious brain damage, developmental delays, and intellectual disability. Early diagnosis and prompt treatment are very important. Children who are identified and treated quickly — ideally within the first weeks of life — tend to have much better outcomes than those diagnosed later. Ongoing care from a team of specialists, including neurologists and metabolic doctors, is essential to manage this condition long-term.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Bring these to your next appointment

• Q1.What dose of folinic acid does my child need, and how will we know if it is working?,Should my child also be taking vitamin B6, and if so, which form is best?,How strict does the low-lysine diet need to be, and can you refer us to a metabolic dietitian?,What is our emergency plan if my child has a prolonged seizure at home or school?,Should other family members be tested for the ALDH7A1 gene change?,What developmental therapies or early intervention services should we start right away?,How often will we need follow-up blood or urine tests to monitor treatment?

Common questions about Folinic acid-responsive seizures