Talk:Ornithine transcarbamylase deficiency

note

My wife is a carrier and we lost a son to the disease so I decided it deserved a Wiki entry. Much new information is emerging at the moment and I will try to get this article filled out as time permits.--MtB 15:04, Oct 21, 2004 (UTC)

My son was born with OTC deficiency. After genetic testing it was determined that I (his mother) am not a carrier and that my son was born with a genetic mutation.

By a stroke of luck he was diagnosed before he died, which is rare. Then with more luck and extreme vigilance on our part, he managed to survive several bouts with hyperammonemia. He had a liver transplant when he was 8 months old. Unfortunatley, the transplant happened after he already sustained neurological damage. He has physical symptoms like severe Cerebral Palsy and he is developmentally disabled. If he had not had his transplant when he did he wouldn't have lived much longer. His transplant was, and continues to be, a major success. He has suffered no ill effects of his transplant or his daily use of immunosuppressant drugs. He is very lucky in that regard.

I added the information about liver transplant being a treatment option. Honestly, my only regret is that we didn't list him for transplantation sooner. I also added a link to the National Urea Cycle Disorder Foundation website.

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i lost my cousin to OTC earlier this year, he was 27

19-5--08

i have since been diagnosed with OTC, im currently 22, and am tested yearly to keep an eye of my levels

both my auntie and my mum are both carriers, i have been tested for this.

--Uridine-- Since this condition can cause orotic acidemia, would uridine supplementation benefit the person at all? —Preceding unsigned comment added by Interestedperson (talk • contribs) 02:47, 27 October 2008 (UTC)

Confusing lead

"Ornithine transcarbamylase deficiency (OTCD), a common urea cycle disorder, is a rare metabolic disorder, occurring in one out of every 80,000 births."

To this lay reader, the part in bold is confusing. It's common, but it's rare? One possibility is that urea cycle disorders are rare, and of those, OTCD is a relatively common one. Even if that's the case, the passage should be reworded to make the sense clearer. But I'm not going to change it, because I genuinely don't know if that's the case. Hopefully, someone who knows what the actual situation is can clarify. BrianTung (talk) 18:05, 15 January 2013 (UTC)

I have been reworking this article. Most metabolic disorders, including the urea cycle disorders are rare - however OTC is the most common. So, it is common among the urea cycle and common when geneticists talk about a disorder being "common", but by almost any reasonable definition, it is rare. Please let me know if this is still unclear. Canada Hky (talk) 02:25, 22 January 2014 (UTC)

Ornithine transcarbamylase deficiency.

Hello, My Sister had OTC Deficiency. They diagnosed her as an infant and we were blessed to have her until the age of 48. She passed in 2019. She was our miracle. They said she would not live passed the age of 2. She was getting to much protein as a baby (which doctors were not really familiar with this, and from what I was told not much education back then) she ended up having seizures, a stroke and ended up in a coma for nearly 2 weeks. Before this happened, she was doing normal baby things, when she came out of the coma, and they ruled that She was now Mentally retarded. ( due to seizures and coma) at the age of 48, She functioned as a 5 year old, and spoke, walked and had the biggest heart of anyone I ever knew. Her diet had little to no protein. She eat only Vegies. It took years for providers to figure out that protein was the cause of her being sick (deathly sick) most of her life. It was a horrible thing to watch her go through. Some doctors were scared to take her case, because they had no idea how to treat her. She was a teaching tool for those who wanted to learn about her. Shelley8425 (talk) 05:17, 4 September 2023 (UTC)