Maple Syrup Urine Disease (MSUD)

Feeding your possible with MSUD

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What is MSUD (Maple Syrup Urine Disease)?

MSUD, or Maple Syrup Urine Disease, got its memorable name because people with the condition have a ‘maple syrup’ smell to their urine and body fluids. It is a rare inherited metabolic condition that affects about one in every 150,000 babies born in Australia and New Zealand. People with MSUD have inherited a simple genetic change from both parents, which affects an enzyme that helps break down leucine (Leu), isoleucine (Ile) and valine (Val), amino acids found in protein. Leu, Ile and Val are also known as the branched chain amino acids (BCAAs) and the enzyme is called BCKDH, or branched-chain α-keto acid dehydrogenase. In people with MSUD, BCKDH is either faulty, or doesn’t work at all. Having this faulty enzyme means that when people with MSUD eat too much protein, and at other times when the body breaks down more protein than usual (during illness, for example), BCAAs and their by-products build up in the body and cause problems. The good news is that MSUD can be managed by following a low protein diet with nutritional supplementation, allowing people with MSUD to reach their full potential and live rich, healthy lives.

We call this “Feeding Your Possible”

Why should you feed your possible?

“Diet for life” is the best way you can stay healthy and reach your full potential living with MSUD.

During childhood, following the diet to control BCAA levels is essential to prevent damage to the brain as it develops. But managing MSUD is for life, and if you’re an adult or a teenager with MSUD, you can face some pretty serious consequences if you don’t stick to your diet.

When you have high levels of BCAAs, you can have symptoms that affect your mood and thinking. You might have more trouble understanding things, feel hyperactive, have disturbances in your sleep, hallucinations or mood swings. You may also have problems with moving and coordination and difficulty controlling your muscles. If your levels stay high, you could go into a coma or sustain permanent brain damage. That’s why it’s important to stick to your diet, and to have a plan to lower your BCAA levels in case they suddenly rise because you are sick, stressed or injured.

Adults and teenagers with MSUD have a higher risk of developing neurological conditions including ADHD, depression and anxiety. These are conditions that can affect how you feel, your performance at work or school, and the way you get along with others. Scientists believe that these conditions may be more likely in people who have not maintained good control of their BCAA levels over time. Following your diet and regularly checking in with your metabolic team is the best thing you can do to stay healthy and be the best version of yourself.

Maple Syrup Urine Disease (MSUD)
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How is MSUD diagnosed?

There are different types of MSUD, and diagnosis can depend on which type you have.

These days, all babies born in Australia and New Zealand are tested for MSUD days after birth through the Newborn Screening Program. If high levels of BCAAs are detected, more testing, including genetic analysis, is done to confirm a diagnosis of MSUD.

Some people with MSUD have BCKDH enzymes that work well enough to keep their BCAA levels normal most of the time, except when they are sick, when they become very unwell illness causes their BCAA levels to rise. Newborn screening may not detect MSUD in these people. This condition is known as intermittent MSUD, and it is usually diagnosed during illness, or because a person has problems with their development.

How is MSUD managed?

Diet is the gold standard in MSUD management (although some people have a form of MSUD that can be treated with a liver transplant). Everyone has specific and individual dietary needs, whether they have MSUD or not, and reach their full potential by eating the food their bodies need. MSUD is really no different. Many people in Australia and New Zealand living with MSUD feed their possible by following an individualised diet that includes low protein food and an MSUD nutritional supplement, keeping an eye on their BCAA levels, following strict protocols when they are sick, and regularly checking in with their metabolic team.

There are many ways you can feed your possible at Low Protein Connect. Get inspired by our low protein recipes, discover flavour and variety in the online store where you’ll find a wide range of MSUD supplements and low protein foods, and take time out for your wellbeing with our low protein lifestyle tips.

Reference sources:

The Australasian Society for Inborn Errors of Metabolism (ASIEM). The ASIEM Low Protein Handbook for MSUD. Available at: https://www.hgsa.org.au/resources/asiem-resources-for-parents-and-families/asiem-dietary-handbooks. Accessed January 2021.

Ali EZ et al. Mol Genet Metab Rep 2018;17:22–30.

Adam MP, Ardinger HH, Pagon RA, et al., editors. Maple Syrup Urine Disease – GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021.

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