Maple Syrup Urine Disease song :O
link:http://www.youtube.com/watch?v=FSu_IHJ9Q0w
So...What is Maple Syrup Urine Disease?
For people without MSUD, the 3 amino acids will be broken down and be used as energy when they are not used to build proteins. The 3 amino acids are normally broken down by 6 subunits that form a complex called Branched-chain alpha-ketoacid dehydrogenase (BCKD).
People with MSUD have a mutation which causes a deficiency for one of the 6 subunits that forms BCKD. Therefore, the BCKD complex will not be formed and is unable to break down leucine, isoleucine and valine. This causes dangerously high levels of amino acids in the blood, destroying brain cells and can even lead to death if left untreated.
Also, this disease is autosomal recessive. This means that both the parents must have the MSUD gene and the child must inherit the defective recessive gene from both parents to get the disease.
How MSUD got its name - the accumulation of the 3 amino acids in the urine causes it to smell like maple syrup <-------- DELICIOUS!!
References
Genetic Science Learning Center (1969, December 31) Maple Syrup Urine Disease (MSUD). Learn.Genetics. Retrieved June 18, 2012, from http://learn.genetics.utah.edu/content/disorders/whataregd/msud/
Iobbi, L. P. (2012, June 8). Maple syrup urine disease (MSUD) . flipper e nuvola. Retrieved June 18, 2012, from http://flipper.diff.org/app/items/info/4499
What i learnt:
ReplyDeleteMaple Syrup Urine Disease is an autosomal recessive hereditary metabolic disease. Meaning to say, only if both parents contain the allele for this disease, then the possibility of the child getting the disease is pretty high. Therefore, genetic counselling is conducted for couples who have a history of MSUD but still want to have children.
This disease is caused by a mutation in 1 of the 6 subunits in the Branched-chain keto acid dehydrogenase (BCKD) complex. If this BCKD complex is not formed, and therefore the body is unable to break down leucine, isoleucine and valine. Accumulation of high levels of amino acids will cause brain damage and eventually death.
I've never knew an accumulation in amino acid in our body could lead to such dire consequences. Now that I've got some knowledge about this disease, i can take note of my dietary habits to prevent the onset on any diseases caused by amino acids.
The content on this blog is indeed well written. The outline of the blog is good, whereby it is in sequence (intro,causes,symptoms,etc...). This has allowed me to gain a better understanding of the disease before moving on to the symptoms.
However, i feel that videos of how people with MSUD lived these years. They provide a first hand information and we can know how they actually cope with this disease.
OVERALL, GOOD EFFORT PUT IN! :D Had a great time learning about MSUD from here! ^^
Kei Onn here ^^
ReplyDeleteWhat I've learnt:
MSUD is where valine,isoleucine and leucine(branched chain amino acid) will not be broken down by Branched-chain-alpha ketoacid dehydrogenase.
Most common cause of MSUD is when alpha subunit of BCKD complex is mutated:Tyrosine amino acid is replaced with asparagine. This prevents the branched chain amino acids from breaking down. Effects of the disease includes neurological symptoms and presence of maple syrup odor in urine. Symptoms include metabolic acidosis, brain swelling and seizures etc. If metabolic crisis is prolonged, it may lead to irreversible brain damage. Cure of MSUD includes dietary restriction ( diet free of branched chain amino acids) to prevent valine,isoleucine and leucine levels from increasing, and also gene therapy.
What I think:
I believe to gene therapy is the best therapy available (even though it may lead to mutations), this is because, you can permanently cure the MSUD instead of having to be mindful of your diet and have it on continuous basis free from this amino acids( yes, if it was me i wouldn't want to be a vegetarian >.<). Furthermore, once your gene is corrected, you do not have to worry about your offspring inheriting the defect in gene and which may lead to disease occurence or being as a carrier. Hence, i believe that scientists could focus more on developing this gene therapy, reducing the probability of mutation instead of finding and exploring new areas of cures.
What I like:
alot of diagrams to simplify understanding( I'm pretty much a visual person), detailed explaination of the biochemistry behind it:D
What i dont understand x.x:
the intro part "3 amino acids - valine, isoleucine and leucine (branched chain amino acids) is used to build proteins. " then why is it a bad thing to accumulate it ( not breaking down) when it is used to build proteins?
I've always thought that sweet-smelling (and "tasting") urine is only produced by people suffering from diabetes, until I found out about the "Maple syrup urine" disease. While I am lucky not to have such a disease and not a carrier of such disease, I should still be careful as we never know when such mutations will occur
ReplyDelete