Article
A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons - 1 Apr 2013
Mukhtar A, Dabbous H, El Sayed R, Aboulfetouh F, Bahaa M, Abdelaal A, Fathy M, El-Meteini M
Abstract excerpt
Ornithine transcarbamylase (OTC) deficiency (OTCD) is an X-linked urea cycle disorder. Being an X-linked disease, the onset and severity of the disease may vary among female carriers. Some of them start to develop the disease early in life, whereas others remain asymptomatic throughout their lives. Our patient was a 42-year-old man who developed severe hyperammonemia and fatal brain edema after receiving a right...
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