Bibliography

URL: http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm

URL: http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease

URL: http://www.pearsonsuccessnet.com/snpapp/login/login.jsp

Treatment for the diaease

Treatment involves a protein-free diet. During a flare up, fluids, sugars, and fats are given by IV. Peritoneal dialysis, or hemodialysis are used to reduce the level of amino acids.
A special diet free of branched-chain amino acids is started immediately.
Long term treatment requires a special diet. The diet includes a synthetic infant formula with low levels of the amino acids leucine, isoleucine, and valine. Persons with this condition must remain on this diet permanently. It is very important to always stick to this diet to prevent neurological damage. This requires frequent blood tests and close supervision by a registered dietitian and a physician, as well as parental cooperation.

Symptoms for Maple Syrup Urine Disease Include...

• Avoiding Food
• Comas
• Feeding Difficulties
• Lethargy
• Seizures
• Urine that smells like Maple Syrup
• Vomiting

Picture

Below this is a picture of the missing amino acid.

New Info

About 1 in 185,000 infants are effected each year. The genes that are mutated include BCKDHA, BCKDHB, DBT, and DLD.

Maple Syrup Urine

Maple Syrup Urine disease is due to specific protien and amino acid building blocks not being able to process properly. It can be recived through generations, and is produced through malnourishment or developemental delay. When the person urinates, the urine produces a sweet odor and is usually darker colored than normal urine. If left untreated, the disease could be potentially deadly. Milder forms of the disease can involve mental and/or physical retardation.