How common is the disease of the urine of maple syrup?

Maple syrup urine is unusual genetic diseases. It is often identified in the first few months of life, because it causes a sweet smell of sweet, or as described, smells similar to maple syrup. This sweet fragrance is the result of the inability of the body to break down a certain amino acid, mainly valin, leucine and isoleucine, which are called amino acids with a branch chain. The disease is both genetic and inherited, although the number of people affected MSUD is relatively low. In time of recognition and treatment, damage to this disease can be minimized. Low isoleucine, valine and leucine diets are usually performed after diagnosis.

The disease of the urine of maple syrup is very rare. There are a higher incidence of disease in Mennonites and Ashkenazi Jews. Families with a history of disease can be transferred to genetic counseling that help identify and treat the problem in time.

Usually the disease of the urine of maple syrup is manifested at the beginning of life, the sculptural symptom is urine withtuning smell. Other symptoms may also be present, including extreme drowsiness, throwing, rejecting food and cannot eat sufficiently. If the condition proceeds, it will begin to cause serious brain damage and can also lead to life -threatening seizures or coma. Although infants may develop this condition most often, sometimes older children or young children gain symptoms, and although they have a milder form of disease, it is not less serious if it is not solved.

disease tests can look at the level of urine and blood amino acids to determine whether the body properly manipulates the amino acids of the branched chain. When the urine disease of maple syrup is diagnosed, the first treatment is dependent on these blood levels. Doctors may need to initially give dialysis. The next step is the formation of a diet that the affected person remains throughout his life, which avoids the substances containing Isoleucine, Valin and Leutin. This tends to mean consuming very low protein.

with the right diet for disease of maple syrup urine can still have episodes where they become ill with the above symptoms. Very strict adherence to the diet is emphasized to keep these episodes to a minimum. Failure to meet the instructions for physicians and nutrition for eating behavior actually risk mortality and the best chance of good prognosis and longer life is to follow the instructions for the doctor in the letter.