hensleyt-+Maple+Syrup+Urine+Disease

Maple Syrup Urine Disease Maple Syrup Urine Disease, also known as MSUD, is a deadly disorder that affects the way the body breaks down three amino acids; leucine, isoleucine, and valine.If not used to make a protein, these acids can be recycled or broken down for energy uses. Normally, these are broken down using a six-protein complex called BCKD (branched-chain alpha-keto acid dehydrogenase). MSUD victims have a mutation that results in deficiency for one of the proteins. They cannot break down these amino acids, leaving high levels of them in their blood, causing degeneration of brain cells and if not treated, eventually death. Defects in any of the six subunits of BCKD can lead to MSUD, but the most common defect is caused by a gene mutation on chromosome 19.
 * Description: **

MSUD is inherited in an autosomal recessive pattern. A child gets the disease when they inherit a defective copy of the gene from each parent. If both parents are carriers of the gene, each child they produce has a 25% chance of getting MSUD, and a 50% chance of becoming a carrier.
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There are several forms of MSUD; each varies in severity and characteristics. All subtypes can be caused by mutations in any gene of the BCKD complex. An affected baby may seem and appear normal at birth. But within three to four days, symptoms begin to appear. Symptoms such as; loss of appetite, fussiness, and sweet-smelling urine.
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In some states, all babies are tested for MSUD within twenty-four hors of birth. A sample of blood contracted from the heel is analyzed for high leucine levels. A follow-up blood test for levels of amino acids can be requested for affected babies.

Treatment must begin as soon as possible to prevent brain damage. Diets must work around and avoid amino acids; leucine, isoleucine, and valine. Babies must eat a special formula that does not contain the acids. Growing into adulthood, affected victims must restrict their diet from high protein foods such as meat, eggs, and nuts. If amino acid levels continue to stay dangerously high, patients can get an intravenous solution which helps the body use up excessive acids. If not treated, an affected baby can experience seizures which usually results in a coma and eventually, death.
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There is no perfected cure for the disease just yet, however there is an idea. In 2006, liver transplants cured the symptoms of eleven infected patients at the Children’s Hospital of Pittsburgh. The transplants protect patients from chronic neurological complications. It can be a reasonable alternative to nutritional therapy for patients without access to proper medical care. However, the risk for metabolic crisis and and neurological injury is present. The transplant can be extremely dangerous and does not fully cure the disease, but ameliorates the lives of those with MSUD. A suggested idea for carrier couples who want to have children is simply prevention.
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*MSUD is extremely rare, only 1 in 180,000 babies is born with the disease. However, in specific populations, the disease is more common. Such as the Mennonites in Lancaster, PA with the hazardous statistic of 1 out of 176.
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