Gonzalezant+Maple+Syrup+Urine+Disease

MAPLE STYRUP URINE DISEASE Maple Syrup Urine Disease is a potentially deadly disorder that affects the way the body breaks down three amino acids: leucine, isoleucine, and valine. People with MSUD have a disease that results in a defiency for one of the six protiens that make up this complex. They end up with dangerously high levels of these amino acids in their blood, causing the rapid degeneration of brain cells and death if left untreated.
 * Description: (TNR, 12, Bold) **


 * Inheritance: **

Maple Syrup Urine Disease (MSUD) is inherited in an autosomal recessive pattern.for a child to get the disease, he or she must inherit a defective copy of the gene from each parent if both parents carry the MSUD gene, each of their children has a 25 percent chance of getting the disorder, and a 50 percent chance of being a carrier.

The symptoms for MSUD are a simple forms of MSUD. Each form depends in its characteristics features. However all types of the disorder can be caused by mutations in any of the six genes used to build the BCKD protein complex. A baby who has the disorder may appear normal at birth, but after three or four days the baby will be affected. Loss of appetite, fussiness, and sweet-smelling urine are the symptoms.
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 * Daily Life: **

A daily life for a person who lives with Maple Syrup Urine Disease can worsen if anyone left this disease without any medical help the babies condition will only worsen. The baby can have seizures and go into comas, and will die in a few months.


 * Diagnosis: **

Diagnosis for MSUD in some states, all babies are assumed to have Maple Syrup Urine Disease with the first day the baby is born. A blood sample taken from the baby’s heel is evaluated for high leucine levels.

This disease is treated by Gene Therapy it is a potential future treatment for proteins with MSUD. This would involve replacing the infected gene with a normal copy allowing the patients cells to run a functional protein structure and break down the excess amino acides.
 * Treatment: **

Treatments, or preventions for this disease are the three amino acids still get too high patients can be treated with an intravenous (given through a vein) solution that helps the body use up excess leucine, isoleucine and valine for protein synthesis. Additional facts about MSUD is that this disease is rare only 1 in 180,000 babies is born with MSUD. But in certain populations the disease is much more common. Among the Mennonties in Pennsylvania, as many as lout of every 176 babies is born with this disorder.
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