phenylketonuria
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
PAH deficiency
exact
PKU
exact
hyperphenylalaninemia, non-PKU mild
exact
phenylalanine hydroxylase deficiency
exact
phenylketonuria
exact