FAQ - maple syrup urine disease
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What is the history of Maple Syrup Urine Disease and who discovered it?


Can you also post the links that you used?
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besides maple syrup urine disease, what are some causes of urine that smells sweet like syrup?


my daughter is 2 and occasionally gets this. MSUD is routinely tested with newborn screens, so i know it's not that.
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Diabetes mellitis (Type 1, in this case)
In olden days, physicians would take a sip of the patient's urine to see if it tasted sweet.
If you were curious, diabetes comes from the word for “siphon,” as people with diabetes urinate like a siphon draining water. Mellitus comes from the word for honey, since people with diabetes mellitus have a sweet smelling (and tasting) urine, from the excess glucose in it. Insipidus comes from insipid, meaning “lacking flavor or zest; not tasty,” since diabetes insipidus has non-sweet urine. Diabetes insipidus (DI) is an uncommon condition that occurs when the kidneys are unable to conserve water as they perform their function of filtering blood.  (+ info)

Is gene therapy an option for maple syrup urine disease?


If yes, can you please give me a website of some sort to help me with my biology project. Thanks so much.
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yes

http://learn.genetics.utah.edu/content/disorders/whatar  (+ info)

My daughter has one of the rarest diseases in the world, maple syrup urine disease?


Now they say she may have Graves disease on top of it, could anyone tell me anything about it, thanks
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You are right it's a relatively rare disease. It's genetic and is most often seen in Mennonites.

Your daughter has an inability to process certain chemicals. Her urine would smell like carmelized sugar, thus the name of the disease. It is treatable.

Graves disease is hyperthyroidism. Graves disease means that all the processes in your daughter's body are speeded up. Her heart beats faster, her metabolism is faster, and so forth. Medication can easily eliminate the symptoms of the disease.

When you have questions, you should ask your daughter's doctor. Ask them to explain to you what's going in terms that you can understand. If they are a good doctor, they should take the time to explain it to you to your satisfaction.

You can also learn more about the diseases online.  (+ info)

how is maple syrup urine disease diagnosed?


yah um Rainbowzz i didn't ask what is maple syrup urine disease i asked how is it diagnosed.
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Who discovered Maple Syrup Urine Disease?


Also, please post the links that you used. Thanks.
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If you knew that it was also called Menkes Disease, you might have also known it was discovered by John Menkes, in 1954. It came up in some class I had in biochemistry....I wouldn't expect most folks to know that, I just got lucky in an odd way.

I looked up his name - here is his obituary
http://journals.lww.com/neurotodayonline/Fulltext/2009/01020/Distinguished_Pediatric_Neurologist_John_H_.4.aspx  (+ info)

Which chromosome is Maple Syrup Urine Disease on?


Can you also say what reference you used please?
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I've found this article, it says chromosome 19 is the most common...
You can find other sites by searching "chromosome msud" on Google.  (+ info)

What does the Maple syrup Urine Disease do to your body?


give me what effects it has on you....not the symptoms
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http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm

good information at this web site....

the effect it has had on me? It killed my sister... she refused to follow the dietary guidelines for control, and it killed her.  (+ info)

im doing a project on maple syrup urine disease and i need some help......?


where is maple syrup urine disease located on the chromosomes? i got almost everything except this...
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Mutations in the BCKDHA, BCKDHB, DBT, and DLD genes cause maple syrup urine disease. These four genes provide instructions for making proteins that work together as a complex. The protein complex is essential for breaking down the amino acids leucine, isoleucine, and valine, which are present in many kinds of food (particularly protein-rich foods such as milk, meat, and eggs).

Mutations in any of these four genes reduce or eliminate the function of the protein complex, preventing the normal breakdown of leucine, isoleucine, and valine. As a result, these amino acids and their byproducts build up in the body. Because high levels of these substances are toxic to the brain and other organs, their accumulation leads to the serious medical problems associated with maple syrup urine disease.  (+ info)

My daughter has maple syrup urine disease, she is 19?


She is currently on a liver transplant list, it will be a year at the end of the month. We will be staying in Pittsburg Pa for up to 3 months, she will also be giving her liver to someone else. I have been tryin to fund raise. Anyone have any ideas, everytime i come up with something, it gets shot down. Thanks
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I am exceedingly well-versed in medicine and
I have never heard of this disease.
I'm sorry to hear that your daughter needs a liver donor.
There are websites on line that you can check.
Good luck and God Bless.  (+ info)

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