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