Phenylketonuria (PKU) is a rare metabolic disorder. People with PKU cannot metabolise phenylalanine, an amino acid found in protein foods. This builds up to levels that are toxic to the brain. PKU is diagnosed by the “heel prick” new-born screening test.
PKU is a treatable condition. If not correctly treated it results in severe and irreversible brain damage. Treatment by restricted diet has been shown to be effective. People born with PKU who receive the correct treatment can now have the same educational and career goals as people without PKU.
If your baby has just been diagnosed with PKU, please look at this section of the website first.
The standard treatment for PKU is a low phenylalanine diet. The PKU diet involves removing almost all natural protein from the diet and utilising prescribed medical dietary products to ensure adequate nutrition. The PKU diet is complex and very restrictive. Many patients find it difficult to adhere to dietary treatment. You can find out more about PKU dietary treatment.
Drug treatments for PKU are already licensed but are not yet available in the UK on the NHS. Research into PKU and new treatments is still ongoing.