ORPHA:1578

Pterin-4 alpha-carbinolamine dehydratase deficiency

Also called Hyperphenylalaninemia due to dehydratase deficiency, Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency, Hyperphenylalaninemia with primapterinuria

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Neonatal

Estimated prevalence

Unknown (Worldwide)

Rarity class

Unknown

ORPHA:1578 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.