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.
MSUD was added to the National Newborn Screening Programme in 1972. Around 1 in 125,000 babies born in the Republic of Ireland has MSUD.
For patient stories click here
Support
MSUD Family Support Group – Based in the US
For exchange lists, manufactured foods list, low protein shopping guides and information for school visit our Low Protein Corner
For a variety of low protein recipes click here
If you would like to use a reward chart to help your child with their eating or taking their synthetic protein then we have a selection here
Printable Resources
Storybook
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 printed copy please contact us directly or ask for a copy at your next out-patient appointment.