Phenylketonuria (PKU)

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

Useful Links
For recipes and articles on living with a low protein diet, please click on the links below:
www.lowproteinconnect.ie
 
www.nspku.org

Printable Resources
PKU Dietary Handbook
1g Exchange list 2017

Slightly higher exchange list 2017-for those on more than 7 exchanges
Super high exchange list 2017-for those on more than 20 exchanges
Low Protein Manufactured Food List 2017
Aspartame and other Sweetener Information for PKU
PKU Pharmacy letter 2017
Reading food labels for PKU
Reward Charts
School letter for PKU
Weaning your baby on a PKU diet
A Guide to Planning a Pregnancy with PKU

Other resources
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 pkuireland@gmail.com or see www.pku.ie

Online Resources

 The following videos produced by Nutricia shows patients living with PKU.