phenylketonuria
PAH deficiency
exact
PKU
exact
hyperphenylalaninemia, non-PKU mild
exact
phenylalanine hydroxylase deficiency
exact
phenylketonuria
exact
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0017306
disorder of phenylalanine metabolism
is_a