Contents
― Your baby's screening result
― What is PKU?
― Treatment
― Related conditions
― What happens next?
― More information and support
― Using your information
The result of your baby’s ‘heel prick’ screening blood test suggests they might have phenylketonuria (PKU) or a related condition. Your baby now needs further tests to check whether he or she has PKU or not.
This leaflet gives you some information about PKU and explains what happens next.
Phenylketonuria (PKU), pronounced as fee-nile-key-tone-you-ree-ah, is a rare but treatable inherited disorder that prevents the normal breakdown of protein.
Babies with PKU inherit two faulty copies of the gene for PKU, one from each parent.
When we eat, our body breaks down protein in food into smaller parts called amino acids. Special chemicals found naturally in our body, called enzymes, then make changes to the amino acids so our body can use them. Babies with PKU do not have one of the enzymes that help break down one of the amino acids. This causes a harmful substance called phenylalanine to build up in their blood and urine.
Babies with PKU benefit significantly from early treatment and can live healthy and active lives. Without early diagnosis and treatment, babies with PKU can develop long-term health problems, including learning difficulties.
PKU can be treated with a special low-phenylalanine diet and dietary supplements.
The special diet prevents the build-up of phenylalanine in the blood. These levels are monitored and the child’s diet adjusted as needed. Dietary treatment for babies with PKU should start as early as possible and continue throughout life.
PKU can be treated with a special low-phenylalanine diet and dietary supplements.
The special diet prevents the build-up of phenylalanine in the blood. These levels are monitored and the child’s diet adjusted as needed. Dietary treatment for babies with PKU should start as early as possible and continue throughout life.
You will be given an appointment to see a specialist metabolic team who
will:
Until you see your specialist metabolic team, you can breastfeed or bottle-feed your baby in the usual way.
If you are concerned about poor feeding or that your baby is unwell, contact your specialist metabolic team.
National Society for Phenylketonuria (NSPKU)
Phone: 030 3040 1090 (helpline)
Email: info@nspku.org
Website: https://www.nspku.org/
For us to contact you as part of the programme,
we will need to handle some of your and your baby’s personal information. If you need more information about this, you can:
We also keep personal details to make sure that the standard of our service is as high as possible. This includes checking your baby’s records if your baby is found to have a condition after having a screening test which showed a ‘not suspected’ result.
We only ever publish information as statistics and we never publish personal details. We pass on
your personal information to health professionals or organisations that need it, including your GP, health visitor and consultant paediatrician. These professionals must protect the personal information in the same way as we do.
All our paper and computer records are stored and processed securely, away from public access.