What is PKU?

Phenylketonuria (PKU) is a rare inherited condition in which there is a build up of phenylalanine in the body. Phenylalanine is a natural substance; it is a building block of protein. PKU is looked for in all newborns in the United Kingdom by measuring phenylalanine levels in the heel-prick blood test. All babies should have this test as it allows treatment to start early in life.

PKU is a treatable condition. Phenylalanine is found in the protein part of the food we eat. The treatment is a low protein diet. This means that high protein foods such as meat, cheese, poultry, eggs and milk are not permitted. Instead the diet is supplemented with artificial protein which contains no phenylalanine. This diet is very effective at lowering levels of phenylalanine and allows normal growth and development of the child.

The Child with PKU - this gives an excellent introduction to phenylketonuria. Although aimed at the parents of newly diagnosed children with PKU, it describes the condition, it's diagnosis and treatment, and gives an overview of the genetic implications of PKU. As such it is a useful reference source for students.

Food lists of Phenylalanine Exchanges - one of the prime services that the NSPKU provides to PKU clinics across the UK is the production and maintenance of lists giving the weight of food that contains 50mg of phenylalanine (equivalent of one "exchange"). The lists are regularly updated and are routinely used by the vast majority of PKU people in the UK and their families.

Management of PKU - a document produced with a consensus of opinion from the leading medical authorities on PKU in the UK. External links

Technical Description of PKU - this is a very detailed document produced in the USA. It would be suitable for students undertaking advanced research into PKU. It contains many references to other information sources.