ORPHA:2102
GTP cyclohydrolase I deficiency
Also called GTPCH deficiency, Hyperphenylalaninemia due to GTP cyclohydrolase deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2102 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.