Maple Syrup Urine Maple Syrup Urine DiseaseDisease

Victoria L. Deschere, Victoria L. Deschere,

the magnificentthe magnificent

Definition of disorderDefinition of disorder

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

DiscoveryDiscovery In 1954 Dr. J. Menkes first In 1954 Dr. J. Menkes first

defined the symptoms and named defined the symptoms and named the disorder for the odor given off the disorder for the odor given off by the urineby the urine

In the early 1960 in London Drs. In the early 1960 in London Drs. Charles Dent and R. Westall Charles Dent and R. Westall started to isolate and remove started to isolate and remove elements in foods that caused elements in foods that caused problems for children with problems for children with MSUDMSUD

Symptoms and effectsSymptoms and effects

poor feedingpoor feeding vomitingvomiting lack of energylack of energy seizuresseizures mental health problemsmental health problems physical retardationphysical retardation mental retardationmental retardation sweet odor, much like sweet odor, much like

burned sugarburned sugar

Symptoms and effects cont.Symptoms and effects cont.

diarrheadiarrhea irritabilityirritability unusual breathingunusual breathing staggeringstaggering hallucinationshallucinations slurred speech slurred speech IF untreated, deathIF untreated, death

Causes of the DisorderCauses of the Disorder

People with MSUD do not have the enzyme People with MSUD do not have the enzyme BCDKH that breaks down certain amino acids BCDKH that breaks down certain amino acids and they build up in the blood and urine. The and they build up in the blood and urine. The problem amino acids are found mostly in problem amino acids are found mostly in protein-rich foods such as milk, meat, and eggsprotein-rich foods such as milk, meat, and eggs

The mutant genes are BCKDHA (19The mutant genes are BCKDHA (19 thth Chromosome), BCKDHB (6Chromosome), BCKDHB (6thth Chromosome), Chromosome), DBT (1DBT (1stst Chromosome), and DLD (7 Chromosome), and DLD (7thth Chromosome)Chromosome)

1919 66 11 77

Cause of the disorder cont.Cause of the disorder cont.

Who it affectsWho it affects Higher incidence in the Higher incidence in the

Amish and Mennonite Amish and Mennonite population. These are population. These are populations that populations that intermarry more often intermarry more often than other ethnic than other ethnic groups.groups.

Males and females and Males and females and all ethnic groupsall ethnic groups

Who it affects cont.Who it affects cont.

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

Rates of OccurrenceRates of Occurrence

1 per 180,0001 per 180,000 in the US in the US 1 in 185,0001 in 185,000 infants worldwide infants worldwide 1 in 3581 in 358 newborns in the Mennonite newborns in the Mennonite

Community Community 1 out of every 1001 out of every 100 people of Filipina people of Filipina

descent carry a gene for MSUDdescent carry a gene for MSUD

Treatments and PreventionsTreatments and Preventions Restricted diet – protein low foods. Strict and Restricted diet – protein low foods. Strict and

constant adherence to the diet will lower chances of constant adherence to the diet will lower chances of mental retardation.mental retardation.

Frequent testing for build up in the blood and urineFrequent testing for build up in the blood and urine Intravenous fluids and sugars given when MSUD Intravenous fluids and sugars given when MSUD

sufferers become dehydratedsufferers become dehydrated Careful treatment of illness and stress – increases the Careful treatment of illness and stress – increases the

problem with the enzymes breaking down the amino problem with the enzymes breaking down the amino acidsacids

Future of this disorderFuture of this disorder

In the past, dialysis, the cleaning of the blood In the past, dialysis, the cleaning of the blood externally by a machine, was used to lower the externally by a machine, was used to lower the toxic level of chemicals. This is no longer the toxic level of chemicals. This is no longer the preferred method of cleansing.preferred method of cleansing.

Research in liver transplants and gene therapy Research in liver transplants and gene therapy are making breakthroughs every day.are making breakthroughs every day.

What families should know…What families should know…

There are many support groups and special There are many support groups and special food supplies that will help families of food supplies that will help families of children with MSUD deal with the disorder.children with MSUD deal with the disorder. MSUD (Maple Syrup Urine Disease) Family MSUD (Maple Syrup Urine Disease) Family

Support Support Much recent research have found treatments Much recent research have found treatments

that alleviate the disorder and eliminate the that alleviate the disorder and eliminate the need to a close adherence to the diet. There is need to a close adherence to the diet. There is hope!hope!

Works CitedWorks Cited Allen , RJ, M.D. “A brief history of Maple Syrup Urine Disease (MSUD)” Allen , RJ, M.D. “A brief history of Maple Syrup Urine Disease (MSUD)”

December 1993 Maple Syrup Urine Disease Family Support Group. Jan. December 1993 Maple Syrup Urine Disease Family Support Group. Jan. 9, 9, 2007 http://www.msud-support.org/web11_2.htm#brief%20history2007 http://www.msud-support.org/web11_2.htm#brief%20history

““Filipino maple syrup urine disease.” Filipina Soul. 2007. b5media.com Jan. 9, Filipino maple syrup urine disease.” Filipina Soul. 2007. b5media.com Jan. 9, 2007 2007 http://http://www.filipinasoul.com/filipinowww.filipinasoul.com/filipino-maple-syrup-urine-disease/-maple-syrup-urine-disease/

Kugler,Mary. “Maple syrup urine disease.” About: rare disease. June 20, 2004 . Kugler,Mary. “Maple syrup urine disease.” About: rare disease. June 20, 2004 . About, Inc., Jan. 9, 2007 http://rarediseases.about.comAbout, Inc., Jan. 9, 2007 http://rarediseases.about.com

““Liver Transplants Provide Metabolic Cure For Rare Maple Syrup Urine Disease.” Liver Transplants Provide Metabolic Cure For Rare Maple Syrup Urine Disease.” Science Daily. April 10, 2006. Children’s Hospital of Pittsburgh. Jan. 9, 2007 Science Daily. April 10, 2006. Children’s Hospital of Pittsburgh. Jan. 9, 2007 http://http://www.sciencedaily.comwww.sciencedaily.com

““Maple syrup urine disease.” Genetics Home Reference. January 5, 2007. National Maple syrup urine disease.” Genetics Home Reference. January 5, 2007. National Institute of Health, Jan. 9, 2007 http://ghr.nlm.nih.govInstitute of Health, Jan. 9, 2007 http://ghr.nlm.nih.gov

““Maple syrup urine disease.” Medline Plus, trusted health information for you. April 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.gov20, 2005. A.D.A.M., Inc, Jan. 9, 2007 http://www.nlm.nih.gov

"Maple syrup urine disease." "Maple syrup urine disease." Wikipedia, The Free EncyclopediaWikipedia, The Free Encyclopedia. 7 Jan 2007, 23:45 . 7 Jan 2007, 23:45 UTC. Wikimedia Foundation, Inc. 9 Jan 2007 <UTC. Wikimedia Foundation, Inc. 9 Jan 2007 <http://http://en.wikipedia.org/w/index.php?titleen.wikipedia.org/w/index.php?title==Maple_syrup_urine_disease&oldidMaple_syrup_urine_disease&oldid=99204443=99204443>. >.

““MSUD Family Support Group.” Maple Syrup Urine Disease Support Group. Jan. MSUD Family Support Group.” Maple Syrup Urine Disease Support Group. Jan. 9, 2007. 9, 2007. http://www.msud-support.orghttp://www.msud-support.org//. .