Okay guys! So here is a life story of Emily who has Maple Syrup Urine Disease (MSUD). (Click on the link below)
Emily's Life Story.
Sad story isn't it? Well, i'm glad that Emily had continued with her life although she was struck by such a disease. Good going! Alright, here are some points to note from her story itself.
1. MSUD gives a sweet smell to your urine and ear wax
2. Strict diet - Low protein food.
3. Metabolic rate for the three offending amino acids(Leucine, isoleucine and Valine) was only 5% the rate of normal.
4. Eating in small quantity holds MSUD at check. ( Less likely for bad reactions to occur)
5. Exercising helps patients with MSUD because it gets rid of the toxins.
6. The law protects people with disabilities including MSUD!!
Here is a picture of the MSUD formula that emily was talking about!
This diet powder is specially formulated for people with MSUD! It has no leucine, isoleucine or valine.
Has anyone been wondering how emily's brother had died from the disease?
Well, it seems that brain edema is the most dangerous complication of MSUD and is normally the cause of death of these patients during a metabolic crisis. Brain edema is also known as brain swelling. So what causes the swelling? It is actually not the amino acids that causes the swelling. Changes in the serum sodium level does. Here is the mechanics behind it. When serum sodium level decreases, the extracellular osmolarity will decrease as well. Since the intracellular omolarity is now higher, water will diffuse into the intracellular space to dilute the intracellular osmolites to the same level. Hence, intracellular water % would increase. However, the brain can only tolerate a certain % of brain swelling due to limitations by the skull. Beyond that, critical pressure develops and your life will be in danger. So that is how emily's brother died.
So there it is, the life story of Emily....
I hope all of you readers learnt something. =)
References: http://www.msud-support.org/index.php?option=com_content&view=article&id=79%3Acerebral-edema-a-maple-syrup-urine-disease&Itemid=5
http://www.cardinal.com/us/en/distributedproducts/ASP/MJ041802.asp?cat=med_surg