Classic MSUD may be missed in newborn screening because of slow rise of blood leucine levels.ġ0. In the classic form of MSUD, 50% or more of the keto acids are derived from leucine and the activity of the BCKD complex is less than 2% of normalĩ. It affects both boys and girls equally.Ĩ. MSUD is inherited in an autosomal recessive manner. It is also more common in people of French-Canadian ancestry.ħ. Being of the Ashkenazi Jewish population increases the chance of a child being born with MSUD by 3x over the general population.Ħ. Among the Mennonites in Pennsylvania, as many as 1 out of every 176 babies is born with the disorder.ĥ. If both parents carry the MSUD gene, each of their children has a 1 in 4 chance of getting the disorder, and a 1 in 2 chance of being a carrier.Ĥ. The disorder occurs much more frequently in the Old Order Mennonite population, with an estimated incidence of about 1 in 380 newborns.ģ. From a general population standpoint, MSUD affects 1 out of every 185,000 children that are born.Ģ. Statistics on Maple Syrup Urine Diseaseġ. It’s important to get this disease treated because it can lead to death if it is not. Children with MSUD typically do not feed very well, vomit often, have lethargy, and will lag behind in development when compared to other children. The unusual name comes from the odor that is detected in the urine of infants who have it. What is Maple Syrup Urine Disease and what does it do? It occurs when there is an inherited disorder present where the body cannot process certain amino acids.
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