Tetrahydrobiopterin Deficiency

How do people inherit tetrahydrobiopterin deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

What other names do people use for tetrahydrobiopterin deficiency?

  • HPA

  • BH4 Deficiency

  • Hyperphenylalaninemia caused by a defect in biopterin metabolism

  • Hyperphenylalaninemia, Non-Phenylketonuric

  • Non-Phenylketonuric Hyperphenylalaninemia

Source: Genetics Home Reference, National Library of Medicine, National Institutes of Health

Subscribe to MedicineNet's Children's Health & Parenting Newsletter

By clicking Submit, I agree to the MedicineNet's Terms & Conditions & Privacy Policy and understand that I may opt out of MedicineNet's subscriptions at any time.

VIEW PATIENT COMMENTS
  • Tetrahydrobiopterin Deficiency - Symptoms

    Please describe the symptoms associated with tetrahydrobiopterin deficiency in your child or relative.

    Post

Health Solutions From Our Sponsors