Maple Syrup Urine Disease: Treatments & Preventions

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While the name of Maple Syrup Urine Disease (MSUD) may sound sweet, it can be a very serious health condition, so understanding the symptoms, causes, and potential treatments are very important.

Treatments for Maple Syrup Urine Disease

The most effective treatments for maple syrup urine disease include changing your diet, going on dialysis, or amino acid supplementation, among others.

Dietary Changes

While protein is an essential part of our diet, it is also the source of the amino acids that cannot be digested by the body. Cutting back on protein intake, or specializing which amino acids you are consuming, can be an effective treatment for this condition.

Dialysis

Dialysis is an unpleasant and time-consuming treatment method, but it can clean your blood and eliminate excess amino acids 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 BCAAs (branched-chain amino acids), so there is no risk of buildup in the blood.

Possible Complications

If this condition is left untreated, and the body experiences a metabolic crisis – a period of intense stress on the body – it can cause some very unpleasant side effects and complications. These include extreme fatigue, loss of cognitive function, irritability, vomiting, seizures, swelling of the brain, lack of blood to the brain, and even a coma. It is possible to never be diagnosed with this condition, as the symptoms never appeared when you were younger. However, if a metabolic crisis occurs and this disease finally reveals itself, it can be very dangerous. The most severe complications include permanent neurological damage, blindness, intellectual disabilities, and even death, in some cases.

Prevention of Maple Syrup Urine Disease

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 tested in your newborn period is the best way to inform yourself and 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.

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