Repurposing a PKU Drug for Autism

A synthetic form of tetrahydrobiopterin may improve core autism symptoms via nitrous oxide pathways.

In several double-blind, placebo-controlled studies and numerous open trials, tetrahydrobiopterin (BH₄) has shown benefit for core symptoms of autism spectrum disorders (ASD) in young children (≤5; Front Neurosci 2010 Jul; 4:52). BH₄ is a cofactor in the production of major neurotransmitters and is essential for nitrous oxide (NO) pathways, but its mechanism in ASD is unclear.

In an investigator-designed, manufacturer-funded study, researchers examined BH₄ metabolic pathways and its clinical effects by administering sapropterin, a synthetic form of BH₄, to 10 children with ASD without seizures (ages 2–6 years). The dose was 20 mg/kg^-1, which is FDA-approved for phenylketonuria in children age 2 years or older. Baseline BH₄ had to be 30 nMl^-1…

Reviewing Author

Barbara Geller, MD

Disclosures

Nothing to disclose

Barbara Geller, MD

Disclosures

Nothing to disclose