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.
Written By The National Society for Phenylketonuria
WHAT IS NSPKU?
The National Society for Phenylketonuria, NSPKU, was formed in 1973 and exists to help and support people with PKU, their families and carers. The NSPKU actively promotes the care and treatment of PKUs and works closely with medical professionals in the UK. It organises events such as conferences and study days throughout the UK, publishes a wide range of publications (including food lists) for parents, PKUs and medical professionals. Local support groups also hold study days and other events. The NSPKU also sponsors medical research into PKU.