Talk:Ornithine transcarbamylase deficiency

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Priority 6

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.