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

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