Tetrahydrobiopterin deficiency is a very rare disorder that increases the levels of several substances, including phenylalanine, in the blood. Most cases of elevated levels of phenylalanine in the blood are caused by a different condition known as phenylketonuria. Tetrahydrobiopterin is a molecule that helps process several amino acids in the body, including phenylalanine.
Signs and symptoms of tetrahydrobiopterin deficiency include
- intellectual disability,
- progressive problems with development,
- movement disorders,
- difficulty swallowing,
- seizures, and
- behavioral problems.
Causes of tetrahydrobiopterin deficiency
Tetrahydrobiopterin deficiency can be caused by mutations in one of several genes, including GCH1, PCBD1, PTS, and QDPR. These mutations are inherited in an autosomal recessive manner, meaning an affected individual must receive one defective gene from each parent, and each parent is an unaffected carrier.
Other tetrahydrobiopterin deficiency symptoms and signs
- Behavioral Problems
- Difficulty Swallowing
- Intellectual Disability
- Movement Disorders
- Progressive Problems with Development
Main Article on Tetrahydrobiopterin Deficiency Symptoms and Signs
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