Phenylketonuria, abbreviated to PKU, is a disease caused by a common inherited disorder in the way our body processes proteins. The problem lies in an enzyme which converts phenylalanine, an amino acid into another amino acid, tyrosine. The consequence of this is that phenylalanine builds up in the body to high levels. This is a state called hyperphenylalaninaemia, it can be caused by diseases other than PKU.
Hyperphenylalaninaemia can damage brain tissue.
In the past, before PKU was understood, children with PKU were often placed in institutional care as a result of their severe mental retardation and frequent convulsions.
The good news is that if diagnosed early the effects of this disorder can be greatly reduced by removing phenylalanine from the diet of newborn babies. This has lead to the introduction of extensive screening programs in the UK and other countries, and the number of people suffering the effects of PKU has greatly decreased. There is also evidence that hyperphenylalaninaemia in pregnant mothers with PKU may cause 'maternal phenylketonuria' which results in symptoms in the child similar to those in PKU irrespective of the child's PKU status.
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