NIH GARD Information: Hyperphenylalaninemia due to dehydratase deficiency
This information is provided by the National Institutes of Health (NIH)
Genetic and Rare Diseases Information Center (GARD).
Synonyms
- Dehydratase deficiency
- Hyperphenylalaninemia with Primapterinuria
- Hyperphenylalaninemia, BH4-deficient, D
- Hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to pterin-4-alpha-carbinolamine dehydratase deficiency
- Pterin-4 alpha-carbinolamine dehydratase deficiency
- Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
- Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency
- CADH deficiency
- PCBD deficiency
Overview
No overview is available at this time. Please check back for future updates.
For more information, visit GARD.