Phenylketonuria (PKU) is a rare genetic disorder that is present from birth. In PKU, the body is unable to break down an amino acid called Phenylalanine which then builds up in the blood and in the brain and can cause problems when untreated.
The treatment for PKU is effective. It involves a protein restricted diet for life and taking regular dietary supplements which contain amino acids, vitamins and minerals. The aim is to keep the blood Phenylalanine level within a specific target range.
Ireland was the first country in the world to begin a national screening programme for PKU. At NCIMD, we have been treating patients with PKU from birth since it was added to the National Newborn Screening Programme in 1966. 1 in 4,500 babies born in the Republic of Ireland has PKU.
Patients with PKU are managed by the multidiscplinary team and we liaise closely with the Metabolic Laboratory to ensure close and frequent monitoring of these patients. We follow international best practise guidelines and we have also presented our experience of management of PKU at various international conferences.
For patient stories click here
For recipes and articles on living with a low protein diet, please click on the links below:
General PKU Information
- PKU Dietary Handbook
- PKU Pharmacy letter
- Aspartame and other Sweetener Information for PKU
- Reading food labels for PKU
- Reward Charts
- School letter for PKU
- Manufactured Food List 2020
- Exchange list 1 gram 2020
- Slightly Higher Exchange List 2020 for those on more than 7 exchanges
- Super high exchange list 2020 for those on more than 20 exchanges
Adult PKU Information
Maternal PKU Information
- A-Guide-to-Planning-a-Pregnancy-with-PKU 2021 update
- Managing your PKU Diet (Pre-Conception) June 2021
- Managing your PKU Diet (Pregnancy) June 2021
- Managing your PKU Diet (Post-Pregnancy) June 2021
Penny and Paul have PKU Storybook-a colourful and informative storybook about Penny and Paul who have PKU has been developed by Jenny McNulty, Dietitian and Jill Moore, Play Specialist. This book focuses on the importance of the synthetic protein. If you would like a copy please contact us directly or ask for a copy at your next out-patient appointment. Penny and Paul have PKU
PKU Association of Ireland
The PKU Association of Ireland is a network of families and individuals who live with PKU. They are dedicated to providing support, information and social contact for both families and patients of all ages. They organise meetings and events where parents, adults and children with PKU can meet. For more information, please email firstname.lastname@example.org or see www.pku.ie
The following videos produced by Nutricia shows patients living with PKU.