ORPHA:238583

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Also called Hyperphenylalaninemia due to BH4 deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

1-9 / 1 000 000 (Japan)

Rarity class

1-9 / 1 000 000

ORPHA:238583 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.