How Common is Maple Syrup Urine Disease?

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  • Written By: wiseGEEK Writer
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  • Last Modified Date: 12 August 2019
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Maple syrup urine disease is an uncommon genetic illness. It's often identified in the first few months of life because it causes urine to smell sweet, or as some describe it, to smell similar to maple syrup. This sweet smell is the result of the body’s inability to break down certain amino acids, principally, valine, leucine, and isoleucine, which are called branched-chain amino acids. The illness is both genetic and inherited, though the number of people affected by MSUD is relatively low. With early recognition and treatment, damage from this disease can be minimized. Diets low in isoleucine, valine and leucine are typically undertaken once diagnosed.

Maple syrup urine disease is very rare. There are higher incidences of the disease in the Mennonites and Ashkenazi Jews. Those families with a history of the disease may be referred to genetic counseling to help identify and treat the problem early.

Usually, maple syrup urine disease manifests early in life, with the principal symptom being sweet-smelling urine. Other symptoms can also be present, including extreme sleepiness, throwing up, refusing food, and failing to eat enough. If the condition progresses it begins to cause severe brain damage, and may also result in life-threatening seizures or comas. Though infants may most often develop this condition, sometimes older babies or young children get the symptoms too, and though they have a milder form of the disease, it is not less serious if it is not addressed.


Tests for the illness can look at urine and blood levels of amino acids to determine if the body is handling branched-chain amino acids properly. When maple syrup urine disease is diagnosed, first treatment is dependent on these blood levels. Doctors might need to give dialysis, initially. The next step is crafting a diet that the affected person remains on for life, which avoids ingestion of substances containing isoleucine, valine and leucine. This tends to mean eating a very low protein diet.

With proper diet for maple syrup urine disease, people may still have episodes where they become ill with the symptoms mentioned above. Very strict adherence to diet is stressed to keep these episodes to a minimum. Failure to conform to doctor and nutritionist guidelines on eating behavior is truly risking fatality, and the best chance of good prognosis and longer life span is to follow physician guidelines to the letter.


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Post 2

I looked this up because I have a friend whose daughter was born with this disorder. I had no idea how rare it was, or whether it could even be treated! I'm glad it can.

My friend took her daughter to a large teaching hospital, where they've seen this disease, and could help her. She is doing much better now, and they're working on diets and so forth to help her with her levels.

They say the prognosis is much better than it used to be and I'm so glad because it's awful to lose a child. I'm so happy that effective treatments are available.

Post 1

This is rare enough that my mom, who has worked in the medical field all her life, has only seen one case, and it was in a baby whose parents were Old Order Amish. This was back in the early 60s and there weren't nearly as many treatments. I know the baby was placed on dialysis, but beyond that, I don't know how he recovered, or if he did. Mom said it was a pretty severe case.

I suspect this is one of those diseases that doctors read about in their medical books, but never see, unless they live near a group of Old Order Amish or Mennonites, probably because there tends to be a fair amount of intermarrying in these groups, which would make for a higher incidence of the disease.

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