ORPHA:13

6-pyruvoyl-tetrahydropterin synthase deficiency

Also called Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

Unknown (Worldwide)

Rarity class

Unknown

ORPHA:13 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.