Justin

=Maple Syrup Urine Disease=

What is it really?

 * Despite popular belief, you will not urinate maple syrup. This is disease was named "Maple Syrup" because of the sweet smell of the infected person's urine. The smell is created due to the body not being able to break down the amino acids leucine, isoleucine and valine.


 * The disease stems from a mutation inside of the 1st, 6th 7th, and 19th chromosome making the disease autosomal and recessive.


 * 4 out of the 23 pairs of human chromosomes get affected by this condition

This can be treated however, as long as it is detected early as an infant. An obvious tell is the presence of the sweet smell in the urine. If gone untreated the child will eventually die. Other more milder = = symptoms are: > > > > > > >
 *  Avoiding food
 *  Coma
 *  Feeding difficulties
 *  Lethargy
 *  Seizures
 *  Urine that smells like maple syrup
 * Vomiting

Testing will be conducted and will require a urine sample. If there is an excess level of in the urine then the child is diagnosed with one of the levels of Maple Syrup Urine. Treatment will consist of a protein free diet, to prevent the infected from being exposed to the amino acids that they cannot digest. To the side is a punnet square of two carriers of MSUD and the results of their children.

1 in 180,000 are born with this disease. With careful family planning this number can change.

The Mennonite community of Lancaster, Pennsylvania is affected heavily by MSUD, with over 1 in 176 individuals affected. This is due to a high carrier rate in the population of the area. By contrast, the disease is rare in the general population.



Sources: [] [] [] Genes and Disease National Center for Biotechnology Information (US). Bethesda (MD): National Center for Biotechnology Information (US); 1998-.