Sarcosinemia, rare genetic disease(cant find a history of it for my bio ISP)

In summary: I'm sorry, I didn't mean to sound like a jerk. You're not the only one who has been struggling with this. I've been trying to find information about this disease for weeks, and I've been to the library and online. I think the closest copy of the book is in Ottawa, and I'm going to have to take the Interlibrary Loan.
  • #1
Green Zach
86
0

Homework Statement


Ok, so i have a bio ISP based on a genetic disease. The disease i am researching is called sarcosinemia also known as hypersarcosinemia, SARDH deficiency, SARD deficiency, and SAR (as far as i know but the list may go on). I basically need to give a 10 page report on how the disease works, history of the disease, how to diagnose the disease etc... but i simply can't find any information on who discovered it, when it was discovered, and other history related topics associated with it. The project is due in about 10 days and i sincerely need this forums help finding any information even remotely connected to the history of sarcosinemia.


Homework Equations





The Attempt at a Solution


I have gone to two libraries (both told me to try google lol), called my local hospital's genetic research department (they were surprisingly helpful but unfortunately didnt have anything on the history of the disease), and have spent about 20hrs reading through articles on the disease + searching through and reading what i could find over the internet.
 
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  • #2
Try this:

American Journal of Diseases of Children, 1967 Jan; 113(1): 134-7.
"Hypersarcosinemia. A newly described inborn error of metabolism."

Two minutes on Google...
 
  • #3
You have a what? An internet service provider based on genetic disease?:confused:

Anyway OMIM (Online Mendelian Inheritance in Man) is a big source for that (despite the name I think it is only about disease inheritance) and I immediately found rundowns and biblio on your question.

http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim
 
  • #4
chemisttree said:
Try this:

American Journal of Diseases of Children, 1967 Jan; 113(1): 134-7.
"Hypersarcosinemia. A newly described inborn error of metabolism."

Two minutes on Google...

well i got that far... but the project needs info on what's in the book not just the title and i can't find any info on what is actualy in the book
 
  • #5
Are you saying that you can't find a journal given the title, date, volume and number and pages? You're going to have to go back to the library... armed with the reference of course. They should be able to help you with it.
 
  • #6
chemisttree said:
Are you saying that you can't find a journal given the title, date, volume and number and pages? You're going to have to go back to the library... armed with the reference of course. They should be able to help you with it.

hey man sorry if i seemed like a bit of a jerk earlyer, i had just finished searching for like 4hrs for documents related to the book you recomended to me... and you i went to the library and apparently the closest copy of the book is in some library in Ottawa ontario which is about 7hrs away from me :( oh well i guess that just means that i can make things up as i go along :P not like my teacher is going to drive out to ottawa to confirm my research lol
 
  • #7
Interlibrary loan...
 

1. What is sarcosinemia?

Sarcosinemia is a rare genetic disorder that affects the body's ability to break down and use an amino acid called sarcosine. This can lead to a buildup of sarcosine in the body, which can cause a variety of symptoms.

2. What causes sarcosinemia?

Sarcosinemia is caused by a mutation in the gene that provides instructions for making an enzyme called sarcosine dehydrogenase. This enzyme is responsible for breaking down sarcosine in the body. When the gene is mutated, the enzyme cannot function properly, leading to a buildup of sarcosine.

3. How is sarcosinemia diagnosed?

Sarcosinemia is diagnosed through a blood test that measures the levels of sarcosine in the body. If the levels are abnormally high, genetic testing may be done to confirm a diagnosis.

4. What are the symptoms of sarcosinemia?

Symptoms of sarcosinemia can vary, but may include developmental delays, intellectual disability, seizures, muscle weakness, and difficulty coordinating movements. Some individuals may also experience behavioral and emotional problems.

5. Is there a treatment for sarcosinemia?

Currently, there is no cure for sarcosinemia. Treatment focuses on managing symptoms and may include a special diet low in protein and supplementation with certain vitamins and minerals. It is important for individuals with sarcosinemia to work closely with a medical team to manage their condition.

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