PKU is a rare genetic disease that manifests at birth and is marked by an inability to break down phenylalanine (Phe), an amino acid that is commonly found in many foods. Left untreated ...

Medications are also available. Treatment and monitoring is lifelong. Phenylketonuria (PKU) is an inherited condition where the amino acid phenylalanine (Phe) builds up in your body. PKU is caused ...

Phenylketonuria (PKU) is an inherited disorder ... microcephaly (a small head); fairer-than-usual skin, hair and eyes (as phenylalanine is involved in the body's production of melanin ...

and eyes. Most people can consume phenylalanine without any risk of side effects. However, some people have the rare metabolic condition PKU, which causes the body to be unable to break down ...

This is more often than not diagnostic of the condition of PKU or phenylketonuria. Plasma levels of phenylalanine are consistently over 120 µmol/L (2 mg/dL) before therapy is initiated.

Phenylketonuria or PKU is caused by lack of an enzyme called phenylalanine hydroxylase. The enzyme converts the amino acid phenylalanine into another amino acid called tyrosine. Being deficient in ...