Joey

__ **Maple Syrup Urine Disease** __ Maple Syrup Urine Disease (MSUD), is an autosomal disorder that affects chromosome 19. It's a potentially deadly disorder that affects the way the body breaks down three amino acids, leucine, isoleucine, and valine. Leucine, isoleucine, and valine. when they aren't being used to build proteins, can be broken down and used for energy, normally by six proteins that act as a team and form a complex called BCKD.(branched-chain alpha-ketoacid dehydrogenase). People with Maple syrup urine disease have a mutation that results in a deficiency for one of the 6 proteins that make up this complex. So, they can't break down the the 3 amino acids. They end up with dangerously high levels of these amino acids in their blood, causing the rapid degeneration of brain cells and death if not treated.

People get this disease by way of the autosomal recessive pattern. So that means, that both the parents have to be carriers for the child to inherit the disease. So, that means there is a 1/4 chance of the child being normal, 1/2 chance of the child being a carrier, and a 1/4 chance of the child having the disease. All subtypes of the disorder can be caused by mutations in any of the 6 genes used to build the BCKD protein complex.

The symptoms are: Loss of appetite, fussiness, and sweet-smelling urine. The increased levels of amino acids in the urine generate the smell, which smells of maple syrup. If left untreated, the condition usually worsens. The baby will have seizures, go into a coma, and die within the first few months of life.

Doctors diagnose this disorder by a screening for it 24 hours after birth. They take a blood sample from the babies heel and analyze for high leucine levels.

Doctors treat this disease through many ways. Such as, dietary restriction of the amino acids leucine, isoleucine, and valine. This treatment must begin VERY early to prevent brain damage. Babies with the disease must eat a special formula that does not contain the three amino acids. If the level of the three amino acids are too high, it can be treated with a solution given through the vein that helps the body use the excess of those amino acids for protein synthesis. Gene therapy is also a potential future treatment for patients with this disease. This will involved replaces the mutated gene with a good copy.

Statistics: This is an extremely rare disorder, only affecting about 1 out of 180,000 people. But, in certain populations the disease is much more common. Such as the Mennonites in Pennsylvania, where as many 1 out of 176 babies are born with this disorder.

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Book reference:

Maple Syrup Urine Disease - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet Refrences, By ICON Health Publications. = = secret