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Maple Syrup Urine Disease

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Presentation on theme: "Maple Syrup Urine Disease"— Presentation transcript:

1 Maple Syrup Urine Disease
(MSUD) Pennsylvania Kyle and Ali Period 6

2 Testing Recommendation
After reviewing MSUD I would definitely recommend that Pennsylvania tests newborns for the disease. The cost of testing a newborn is very low, at 2.19 per test ($326, yearly) and accurate. ( Not only is the cost low, but there is a painless version (urine amino acid test) which many parents would appreciate. It is very beneficial if MSUD is found early, as you can save money on testing. If the disease is found early, you can more importantly immediately begin the low protein diet, which requires a special man made infant formula. In starting the diet early, your newborn will have the best chance of living a normal lifestyle and becoming accustomed to the diet. There may be a slight chance for newborns in the general population of getting MSUD in PA, however the Mennonite population in PA has a much higher chance of getting the disease. Although they are against using modern technology, especially genetic testing a proposal could be made for those who want their newborns tested within the community. For so little you can save your newborn’s life by being prepared for MSUD. KS

3 Background and Genetics of the Disease
The name of the mutated gene is BCKHDA and is located on Chromosome 19. Branched-chain alpha-keto acid dehydrogenase deficiency BCKDHA, BCKDHB, DBT, and DLD genes are mutated and are the main cause of MSUD. Those four genes provide instructions for making a protein complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine. Those proteins are high in protein rich foods such as eggs, milk and meat products. MSUD is inherited in an autosomal recessive matter. ( Both copies of the gene in each cell have the mutation) KS AK

4 Disease Characteristics
Symptoms consists of avoiding food, coma, feeding difficulties, lethargy (hard time waking up), seizures, urine that smells like maple syrup, vomiting, and poor weight gain. The symptoms will develop between four and seven days after birth. This disease is mostly common in newborns. MSUD can cause either death, coma or neurological damage. This disease is very life threatening if untreated, but it can be managed with a low protein diet. KS AK

5 Disease Treatment The only effective long term treatment for MSUD is a protein-free diet. A long term treatment requires a special and permanent diet. This diet includes man-made infant formula, with low levels of amino acids. When the conditions worsens during episodes, fluids, sugars, and sometimes fats are given through a vein (IV). Peritoneal dialysis or hemodialysis can also be used to reduce the level of amino acids in the blood. The most important benefit of knowing early is being able to start the diet before any damage is done. If you have your newborn tested at birth, you will save money as you wont have to spend money on future testing. There is no cure, but once they get used to the right diet, people diagnosed with this disease can live a relatively normal life. KS AK

6 Disease Incidence and Disease Demographics
General Population: 1 in every 185,000 newborns will have MSUD. 706,493 people have MSUD in America. Pennsylvania: 1 in every 180,000 newborns will have MSUD. 69 people have the disease in the general population of PA. However when we turned to the Mennonite population, they have a 1 in 176 chance that their newborns will have MSUD. Out of the 48,215 Mennonites, they have 274 infected. 12,420,000 /180,000= 69 48,215/176=274 KS AK

7 Disease Testing and Cost
$2.19 per test for a newborn. 149,291 newborns are born each year in PA. 149,291 x 2.19= $326, per year for testing. There are two types of testing, plasma amino acid test and the urine amino acid test. Both test for the amount of acid in the newborn and both are very accurate. The plasma amino acid test requires a small sample of blood, a needle is used at the baby’s heel. The urine amino acid test is taken by a clean-catch urine sample If your newborn’s urine smells like maple syrup then there is a good chance they have the disease. However by that time, some damage could have already been done. Inheritance- When both parents are carriers, there is a 25% chance in each pregnancy for the child to have MSUD. There is a 50% chance for the child to be a carrier, just like the parents. And, there is a 25% chance for the child to have two working genes.  KS AK

8 Summary On Position MSUD should be tested for in newborns
The cost for testing is low, 2.19 per test, $326, per year to test newborns The urine amino acid test compared to the plasma amino acid test is harmless and simple If tested at birth, the child’s life will be saved along with money The diet can be started early, ensuring a healthy future for the newborn with a relatively normal lifestyle. Although there is a 1 in 180,000 chance that someone in the general population of PA will become infected with MSUD it should be tested as the characteristics of the disease are deadly. The Mennonite community in PA has a 1 in 176 chance of their newborns being born with MSUD. Although they are against genetic testing as well as modern technology, a proposal should be made to allow testing for those who want it for their newborns. With testing, when compared to other diseases it can be easily controlled. KS AK

9 Bibliography "Maple Syrup Urine Disease - Symptoms, Diagnosis, Treatment of Maple Syrup Urine Disease - NY Times Health Information." Health News - The New York Times. Web. 15 Nov <>. "Maple Syrup Urine Disease." Wikipedia, the Free Encyclopedia. Web. 13 Nov <>. "Statistics by Country for Maple Syrup Urine Disease -" Wrong Diagnosis. Web. 16 Nov <>. "Maple Syrup Urine Disease - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. Web. 17 Nov <>. "Comprehensive Cost-Utility Analysis of Newborn Screening Strategies -- Carroll and Downs 117 (5): S Pediatrics." Pediatrics | Official Journal of the American Academy of Pediatrics. Web. 16 Nov <>. KS

10 Bibliography Cont. Infoplease: Encyclopedia, Almanac, Atlas, Biographies, Dictionary, Thesaurus. Free Online Reference, Research & Homework Help. — Web. 17 Nov < html>. NEWBORN SCREENING. Web. 18 Nov < >.

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