GTR Home > Conditions/Phenotypes > GTP cyclohydrolase I deficiency


Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain. Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical problems ranging from mild to severe become apparent over time. Signs and symptoms of this condition can include intellectual disability, progressive problems with development, movement disorders, difficulty swallowing, seizures, behavioral problems, and an inability to control body temperature. [from GHR]

Available tests

24 tests are in the database for this condition. Compare labs offering these tests.

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Associated genes

Clinical features

  • Irritability
  • Choreoathetosis
  • Limb hypertonia
  • Severe muscular hypotonia
  • Intellectual disability, progressive
  • Dysphagia
  • Progressive neurologic deterioration
  • Seizure
  • Tremor
  • Abnormality of eye movement
  • Lethargy
  • Global developmental delay
  • Dystonia
  • Episodic fever
  • Rigidity
  • Hyperkinesis
  • Hyperphenylalaninemia
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