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Ornithine Transcarbamylase Deficiency

What is Ornithine Transcarbamylase Deficiency?

Ornithine Transcarbamylase Deficiency is a rare metabolic disorder the affects the enzyme ornithine transcarbamylase and the body's ability to get rid of ammonia.

 

 

 

Ornithine Transcarbamylase Deficiency is a rare metabolic disorder the affects the enzyme ornithine transcarbamylase and the body's ability to get rid of ammonia.

 

 

Acknowledgement of Ornithine Transcarbamylase Deficiency has not been added yet.
1.67http://www.jbc.org/cgi/content/full/271/7/3639
Synonyms for Ornithine Transcarbamylase Deficiency has not been added yet.
Cause of Ornithine Transcarbamylase Deficiency has not been added yet.
Symptoms for Ornithine Transcarbamylase Deficiency has not been added yet.
Diagnosis of Ornithine Transcarbamylase Deficiency has not been added yet.
Diagnostic tests of Ornithine Transcarbamylase Deficiency has not been added yet
Treatments of Ornithine Transcarbamylase Deficiency has not been added yet.
Prognosis of Ornithine Transcarbamylase Deficiency has not been added yet.
Tips or Suggestions of Ornithine Transcarbamylase Deficiency has not been added yet.
References of Ornithine Transcarbamylase Deficiency has not been added yet.
personal experience Created by annemichelle21
Last updated 7 Apr 2009, 07:29 PM

Posted by vwalterego
7 Apr 2009, 07:29 PM

Also, I just wanted to let everyone know that there has been a Facebook Group started for OTC Deficiency Awareness. Please start a Facebook page and join the group as this is a great way for parents & patients to learn from one another.

Posted by vwalterego
7 Apr 2009, 07:26 PM

I got lucky when I went into my coma because when I went into my coma I ended up being airlifted to Johns Hopkins. This is where Saul Brusilowe (one of the pioneers of OTC research worked). As a result after seeing my symptoms, my size and talking to my mother about my eating habits and my medical history I was diagnosed almost immediately. Before I was diagnosed I used to throw up when I ate a lot of protein and I also used to get what I thought were migraine headaches. These headaches stopped after I started treatment for OTC.

Posted by anusall
7 Apr 2009, 02:33 AM

If you read my post I just lost my twenty five year old fiance and I was wondering in your case Amy how fast and how the doctors were able to determine the diagnosis of the disorder when you had slipped into a coma. Did you have any symptoms any other time in your life that were more unoticable?

View Full Thread (2 more posts)
Reaching Out to Help Others Created by vwalterego
Last updated 28 Jan 2009, 10:32 PM

Posted by vwalterego
28 Jan 2009, 08:29 PM

Hi! My name is Amy and I am a 35 year old female with OTC. I was diagnosed at age 12. I would be be more than happy to talk to patients or family members to help them deal with OTC.

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personal experience

Created by annemichelle21 | Last updated 7 Apr 2009, 07:29 PM

Reaching Out to Help Others

Created by vwalterego | Last updated 28 Jan 2009, 10:32 PM


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