Maple Syrup Urine Disease (MSUD)

Maple Syrup Urine Disease (MSUD) is a life-threatening rare genetic disorder present from birth. In MSUD, the body is unable to break down 3 amino acids called leucine, isoleucine and valine, which build up in the body and cause problems.

At present, the treatment for MSUD is 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 levels of leucine, isoleucine and valine within a specific target range.

During times of illness the body will break down its own tissue to provide energy (catabolism). This can be dangerous for people with MSUD as levels of leucine, isoleucine and valine will increase quickly.  Patients will have an individualised emergency plan to use when they are unwell.

At NCIMD, we have been treating patients with MSUD since it was added to the National Newborn Screening Programme in 1972. Around 1 in 125,000 babies born in the Republic of Ireland has MSUD.

Patients with MSUD are managed by the multidisciplinary 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 MSUD at various international conferences. Dr. Knerr and her colleagues have just completed a study looking at outcomes in MSUD patients.

For patient stories click here

Printable Resources

Maple Syrup Urine Disease Standard Emergency Letter

MSUD Dietary Handbook
1 gram Exchange list 2023
Slightly Higher Exchange List 2023-for those on more than 7 exchanges
Super High Exchange List 2023 for those on more than 20 exchanges
Low Protein Manufactured Food List 2024
Reading food labels for other protein disorders
Reward Charts
Weaning your baby on a diet for MSUD

Other resources
Mia and Matt have MSUD Storybook-a colourful and informative storybook about Mia and Matt who have MSUD 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. Mia and Matt have MSUD