Maple+Syrup+Urine+Disorder

[|MAPLE SYRUP URINE DISORDER] Maple syrup urine disease (MSUD), is also called branched-chain ketoaciduria, is an autosomal recessive metabolic disorder affecting branched-chain amino acids. MSUD is caused by a deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDH), leading to a buildup of leucine, isoleucine, and valine, the branched-chain amino acids, and their toxic by-products in the blood and urine. __Hows is it Inherited?__ MSUD is inherited in an autosomal recessive pattern. This means that in order for a child to get the disorder, it has to get a defective gene from each parent. If both parents are carriers a child has a 25% chance of getting the disease and a 50% chance of being a carrier. This disorder is caused by a mutation of the BCKHDA gene on chromosome 19.

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Symptoms __ The most noteable symptom is easily the maple syrup smelling urine, but the disorder comes with many more serious symptoms. Inital symptoms appear three to fours days after birth. These symptoms include loss of apetite, fussiness, and the syrup smell. If the disease goes unchecked for whatever reason though, the baby will have seziures, go into a coma, and die within several months of birth.

__Diagnosis__ All thats needed in order to check if a baby has MSUD is a simple blood sample, usually drawn from the heel. The sample is then analyzed for high leucine levels. Some states require that the baby is checked for the disorder within 24 hours of birth.

__Prognosis__ The Disease can be life threatening, but with correct dietary treatment patient can live with the disease. Stress and illness may still lead to the death of the infected individual by increasing certain amino acid levels.

__ Treatment __ The only form of treatment is the dietary restriction of the amino acids leucine, isoleucine, and valine. The treatment must be initiated as soon as possible to prevent brain damage of the newborn. Children with this disease must eat a special formula that does not contain the amino acids leucine, isoleucine, and valine. As the person grows to adulthood, he or she must always watch their diet, avoiding high protein foods such as meat, eggs, and nuts. If the buildup of the three amino acids reach a toxic level, the patient can be treated intravenously with a solution that assists the body in using excess leucine, isoleucine, and valine for protein synthesis.

__Statistics__ MSUD is an extremely rare disorder and usually affects 1 out of 180,000 children. However, in the Menonite (Amish) populations, such as in Lancaster, PA, it is much more prevalent. As many as 1 in 176 newborn children may acquire the disorder. The reason the disease is more prevalent in the Amish population is the fact that the Amish are prone to inbreeding

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RJS- Good information, I didn't know that the disorder was so common in newborns. Good Information, well organize, good job! (Cri-Du-Chat, LN) It was ok, but kind of short and maybe you could add one more picture...(Cri-Du-Chat BW) I think the bottles of maple syrup are funny but inappropriate, GC tourettes LOL! It's pretty funny how this disorder got it's name. Good job with the information, this explains what this disorder is about very well- KO Angelman Syndrome