Tetra Hydrobiopterin Deficieny
Tetrahydrobiopterin deficiency is a rare disorder that increases the levels of several substances, including phenylalanine, in the blood. ... If tetrahydrobiopterin deficiency is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.
- Intellectual disability
- Progressive problems with development
- Movement disorders
- Difficulty swallowing
- Behavioral problems
- An inability to control body temperature.
High levels of phenylalanine are present from infancy in people with untreated tetrahydrobiopterin (thb, bh4) deficiency. The resulting signs and symptoms range from mild to severe. Mild complications may include temporary low muscle tone.