Disorders of Biopterin regeneration

Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage of a molecule called tetrahydrobiopterin, which leads to an increased level of phenylalanine in the body.

Infants with this deficiency often appear normal at birth but over time begin to exhibit mild to severe symptoms and signs such as intellectual disability, developmental problems, movement disorders, difficulty swallowing, seizures, behavioral problems, and inability to control body temperature.