GTP cyclohydrolase I deficiency
Other Names for this Disease
- Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to GTP cyclohydrolase 1 deficiency
- Hyperphenylalaninemia, BH4-Deficient, B
Tests & Diagnosis
On this page
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.