Maple+Syrup+Urine+Disease

MAPLE SYRUP URINE DISEASE (MSUD) MSUD affects the way the body breaks down the amino acids leucine, isoleucine, and valine. When they're not being used to build a protein, these three amino acids can either be recycled or broken down and used for energy. They are normally broken down by six proteins that act together and form a complex called BCKD (branched-chain alpha-ketoacid dehydrogenase). People with MSUD have a mutation that results in a deficiency for one of the six proteins that make up this complex.The most common defect is caused by a mutation in a gene on chromosome 19 that encodes the alpha subunit of the BCKD complex. As a result of this deficiency they can't break down leucine, isoleucine, and valine. This leads to dangerously high levels of these amino acids in their blood which causes rapid degeneration of brain cells and death.
 * an inherited autosomal recessive disorder
 * gets its name from the sweet smell of affected infants' urine
 * affects about 1 in every 185,000 infants
 * more common in the Old Order Mennonite population ( in Pennsylvania) affecting about 1 in every 380 new borns

DIAGNOSIS

A blood sample is taken from the heel of the baby's foot and analyzed for high levels of leucine. In some states it is required that all babies are screened for MSUD within 24 hours of their birth. A urine test can also be taken. PROGNOSIS This disease can be life threatening if left untreated but with strict dietary treatment children can grow into healthy adulthood. Even with dietary treatment stressful situations and illness may cause high levels of certain amino acids. During these flare ups death may occur. SYMPTOMS
 * loss of appetite
 * fussiness
 * sweet smelling urine
 * lack of energy
 * vomiting
 * developmental delay
 * siezures
 * coma
 * [[image:http://tbn2.google.com/images?q=tbn:G3oaz-4zPMnSTM:http://www.mdconsult.com/das/book/body/0/0/1488/f4-u1.0-B978-1-4160-3618-0..10031-1..gr1.jpg width="149" height="131" caption="See full size image" link="http://www.mdconsult.com/das/book/body/0/0/1488/f4-u1.0-B978-1-4160-3618-0..10031-1..gr1.jpg"]]

TREATMENT The diet includes a synthetic infant formula with low levels of the amino acids leucine, isoleucine, and valine. It is very important to always stick to this diet to prevent neurological damage.
 * special diet that is free of branch-chained amino acids is started immediately
 * fluids, sugars, and fats are given through IV during flare ups
 * Peritoneal dialysis or hemodialysis are used to reduce the level of amino acids
 * requiers frequent blood tests and close supervision by a registered dietitian and physician
 * gene therapy may also be used in the future

emh and re Bibliography [] [] [] Pictures [|www.myspecialdiet.com] [|http://learn.genetics.utah.edu] [] www. [|ebooks.ebookmall.com]