At this time, there are no specific treatments that cure the disease. Treating seizures in children with citrate transporter disorder has proven difficult in some patients. We found that two patients have done slightly better with acetazolamide but would like to hear if anyone else has had any improvement with acetazolamide or if any other treatments have been helpful. We recommend that you speak with your neurologist about treatment options for your child.
Several children with SLC13A5 Deficiency are currently participating in a trial of Triheptanoin.