Maple Syrup Urine Disease

1. Maple Syrup Urine Disease Victoria L. Deschere, the magnificent

2. Definition of disorder Build up of certain amino acids in the blood and urine that make the urine smell like maple syrup because the sufferer can not or only partially break down the hazardous amino acids.

3. Discovery • In 1954 Dr. J. Menkes first defined the symptoms and named the disorder for the odor given off by the urine • In the early 1960 in London Drs. Charles Dent and R. Westall started to isolate and remove elements in foods that caused problems for children with MSUD

4. Symptoms and effects • poor feeding • vomiting • lack of energy • seizures • mental health problems • physical retardation • mental retardation • sweet odor, much like burned sugar

5. Symptoms and effects cont. • diarrhea • irritability • unusual breathing • staggering • hallucinations • slurred speech • IF untreated, death

6. Causes of the Disorder • People with MSUD do not have the enzyme BCDKH that breaks down certain amino acids and they build up in the blood and urine. The problem amino acids are found mostly in protein-rich foods such as milk, meat, and eggs • The mutant genes are BCKDHA (19th Chromosome), BCKDHB (6th Chromosome), DBT (1st Chromosome), and DLD (7th Chromosome) 19 6 1 7

7. Cause of the disorder cont.

8. Who it affects • Higher incidence in the Amish and Mennonite population. These are populations that intermarry more often than other ethnic groups. • Males and females and all ethnic groups

9. Who it affects cont. • MSUD is a recessive trait. Both parents must be carriers for the child to get MSUD. In this case, there is a 25% chance each child has this disorder.

10. Rates of Occurrence • 1 per 180,000 in the US • 1 in 185,000 infants worldwide • 1 in 358 newborns in the Mennonite Community • 1 out of every 100 people of Filipina descent carry a gene for MSUD

11. Treatments and Preventions • Restricted diet – protein low foods. Strict and constant adherence to the diet will lower chances of mental retardation. • Frequent testing for build up in the blood and urine • Intravenous fluids and sugars given when MSUD sufferers become dehydrated • Careful treatment of illness and stress – increases the problem with the enzymes breaking down the amino acids

12. Future of this disorder • In the past, dialysis, the cleaning of the blood externally by a machine, was used to lower the toxic level of chemicals. This is no longer the preferred method of cleansing. • Research in liver transplants and gene therapy are making breakthroughs every day.

13. What families should know… • There are many support groups and special food supplies that will help families of children with MSUD deal with the disorder. • MSUD (Maple Syrup Urine Disease) Family Support • Much recent research have found treatments that alleviate the disorder and eliminate the need to a close adherence to the diet. There is hope!

14. Works Cited • Allen , RJ, M.D. “A brief history of Maple Syrup Urine Disease (MSUD)” December 1993 Maple Syrup Urine Disease Family Support Group. Jan. 9, 2007 http://www.msud-support.org/web11_2.htm#brief%20history • “Filipino maple syrup urine disease.” Filipina Soul. 2007. b5media.com Jan. 9, 2007 http://www.filipinasoul.com/filipino-maple-syrup-urine-disease/ • Kugler,Mary. “Maple syrup urine disease.” About: rare disease. June 20, 2004 . About, Inc., Jan. 9, 2007 http://rarediseases.about.com • “Liver Transplants Provide Metabolic Cure For Rare Maple Syrup Urine Disease.” Science Daily. April 10, 2006. Children’s Hospital of Pittsburgh. Jan. 9, 2007 http://www.sciencedaily.com • “Maple syrup urine disease.” Genetics Home Reference. January 5, 2007. National Institute of Health, Jan. 9, 2007 http://ghr.nlm.nih.gov • “Maple syrup urine disease.” Medline Plus, trusted health information for you. April 20, 2005. A.D.A.M., Inc, Jan. 9, 2007 http://www.nlm.nih.gov • "Maple syrup urine disease." Wikipedia, The Free Encyclopedia. 7 Jan 2007, 23:45 UTC. Wikimedia Foundation, Inc. 9 Jan 2007 <http://en.wikipedia.org/w/index.php?title=Maple_syrup_urine_disease&oldid=99204443>. • “MSUD Family Support Group.” Maple Syrup Urine Disease Support Group. Jan. 9, 2007. http://www.msud-support.org/.