Maple Syrup Urine Disease (MSUD): Treatments & Prevention

by John Staughton (BASc, BFA) last updated -

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People are likely to contract maple syrup urine disease (MSUD) at a very young age which is when the severity of the ailment is at its peak. Perhaps that’s why it’s imperative for the family members to know about this disease and ways to treat.

According to MedlinePlus MSUD is a genetic disease in which the body finds it difficult to process amino acids. It can result in the patient developing some serious neurological issues. In most cases, the ailment can turn out to be fatal as well. Thus, timely diagnosis and treatment are of a great essence. But what are the ways in which MSUD can be treated and managed? Let’s find out

Treatments for Maple Syrup Urine Disease

A journal by the Jama network suggests that the most effective treatments for maple syrup urine disease include changing your diet, going on dialysis, and amino acid supplementation, among others.

Dietary Changes

While protein is an essential part of our diet, it is also an important source of amino acids that cannot be digested by the body. Cutting back on your protein intake, or keeping a tab on the kind of amino acids you consume, can be an effective treatment for this condition.


Dialysis is an unpleasant and time-consuming treatment method, but it can clean your blood and eliminate excess amino and keto acids from the body.

Amino Acid Supplementation

Often in conjunction with a protein-free diet, amino acid supplementation can be administered intravenously, but without branched-chain amino acids (BCAAs), so that there is no risk of build-up in the blood.

Monitor blood chemistry 

Keep a check on your blood chemistry, whether at home or in a hospital setting, to keep maple syrup urine disease under check. Make use of special dipsticks to test the patient’s urine for any sign of metabolic deterioration. Frequent metabolic consultations and timely blood tests along with nutritional analysis should be done on a timely basis.

Liver Transplant

Transplantation of the liver is another option to treat maple syrup urine disease. It can permanently stabilize metabolic function, enabling patients to stop the intake of nutritional supplements, and maintaining a strict caloric intake. However, the surgery is most successful when performed at a young age.

Pregnant Women

It is important to keep a close watch on the metabolism of women suffering from maple syrup urine disease during her pregnancy. Women with this health condition should adjust their diet and get their plasma amino acid concentrations checked from time to time to prevent disastrous implications of the ailment in the development of the embryo or fetus. Additionally, it is important to detect amino acid deficiency through fetal growth.


Preventing a genetic-linked disease is difficult, if not impossible, but being aware that you are at risk, and thus avoiding certain factors that can increase your chances of experiencing a flare-up, is a good preventative measure.

  • Family History: If you are familiar with your family’s medical history, it will let you know if you are at risk of having this disease, or of potentially passing it on to your children.
  • Early Testing: Getting children tested as soon as they are born is the best keep the patient informed. This will further help them to take the necessary action should the test come back positive. If not done at birth, plasma or urine testing should be done early on.
  • Dietary Alterations: Certain foods can exacerbate the condition, or make you more likely to have an episode or a metabolic crisis. Protein, in particular, should be reduced from your diet, as this is where many of the excess amino acids will be coming from. Protection Status
About the Author

John Staughton is a traveling writer, editor, and publisher who earned his English and Integrative Biology degrees from the University of Illinois in Champaign, Urbana (USA). He is the co-founder of a literary journal, Sheriff Nottingham, and calls the most beautiful places in the world his office. On a perpetual journey towards the idea of home, he uses words to educate, inspire, uplift and evolve.

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