Phenylketonuria
What is 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.
Other condition names
- PAH deficiency
- PKU
- Phenylalanine hydroxylase deficiency
Inheritance type
Autosomal recessive
Prevalence
- Europe: 1-5 in 10,000
Age of Onset
- Infancy
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