Maple syrup urine disease is a rare genetic disorder that causes sweet-smelling urine due to the body’s inability to break down certain amino acids. It can cause severe brain damage and even lead to life-threatening seizures or coma. Treatment involves a low protein diet and strict adherence to doctor’s guidelines.
Maple syrup urine disease is a rare genetic disorder. It is often identified in the first few months of life because it causes the urine to smell sweet or, as some describe it, smell like maple syrup. This sweet smell is the result of the body’s inability to break down certain amino acids, mainly valine, leucine, and isoleucine, which are called branched-chain amino acids. The disease is both genetic and inherited, although the number of people with MSUD is relatively small. With early recognition and treatment, the damage from this disease can be minimized. Diets low in isoleucine, valine, and leucine are usually undertaken once diagnosed.
Maple syrup urine disease is very rare. There are higher incidences of the disease in Mennonites and Ashkenazi Jews. Those families with a history of the disease may be referred for genetic counseling to help identify and treat the problem early.
Usually, maple syrup urine disease occurs early in life, with the main symptom being sweet-smelling urine. Other symptoms may also be present, including extreme sleepiness, vomiting, refusing food, and not eating enough. If the condition progresses, it starts causing severe brain damage and can even lead to life-threatening seizures or coma. Although infants may develop the condition more often, older children or young children sometimes experience symptoms as well, and while they have a milder form of the disease, it is no less serious if left untreated.
Tests for the disease can look at amino acid levels in your urine and blood to determine if your body is handling branched-chain amino acids properly. When maple syrup urine disease is diagnosed, the first treatment depends on these blood levels. Doctors may need to administer dialysis initially. The next step is to create a diet that the affected person will stick to for life, which avoids the ingestion of substances containing isoleucine, valine and leucine. This tends to mean a low protein diet.
With a proper diet for maple syrup urine disease, people can still have episodes where they get sick with the symptoms mentioned above. Very strict adherence to the diet is emphasized to minimize these episodes. Failure to comply with your doctor’s and nutritionist’s guidelines on eating behavior really risks death, and your best chance for a good prognosis and longer lifespan is to follow your doctor’s guidelines to the letter.
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