Maple Syrup Urine Disease (MSUD)

What is MSUD?

MSUD is caused by the deficiency of enzymes which convert the essential amino acids leucine, isoleucine and valine into other substances in the body.  In MSUD there is a build-up of these amino acids (especially leucine) and other substances in the body.  This build-up can cause damage to the brain if left untreated.  MSUD is so called because the toxic substances produced in the body in an untreated baby can smell a bit like maple syrup. 

How common is MSUD?

MSUD is a very rare disease affecting 1 in about 300,000 births. 

How is MSUD treated?

MSUD can vary in severity.  Classic MSUD is the most severe form of the disease and it can be treated with a low protein diet based on a system of leucine exchanges (i.e. the weight of food which provides 50mg of leucine) where one food can be swapped for another to vary the diet.  A supplement of essential amino acids (sometimes called branch chain free amino acid supplement) also needs to be given or the diet will be too low in protein and essential amino acids. There are many low protein food alternatives available such as bread, biscuits, all purpose flour for baking, pizza bases and pasta.  These products provide the diet with variety and a useful source of energy.  Leucine levels are checked on a regular basis and the dietary treatment is altered depending on these levels, in discussion with the dietitian.   If a person with MSUD is unwell it is important that they reduce or stop their leucine exchanges and start an emergency regime of a high carbohydrate intake from a glucose polymer as well as the usual branch chain free amino acid supplement.

The Juvela Low Protein Team are also doing our best to develop low protein recipes to make your diet as varied as possible, so that you are not missing out at mealtimes and snack time!

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