A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient
Mukhtar, A; Dabbous, Hany; El Sayed, R; Aboulfetouh, F; Bahaa, M.; Abdelaal, A; Fathy, M; El-Meteini, Mahmoud;
Abstract
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 lobe graft from an asymptomatic female living donor with unrecognized OTCD. The donor developed hyperammonemia and disturbed level of consciousness that was managed successfully by hemodialysis. Molecular testing of the OTC gene in the donor revealed a heterozygous nonsense mutation (c.429T>A) in exon 5.
Other data
| Title | A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient | Authors | Mukhtar, A; Dabbous, Hany ; El Sayed, R; Aboulfetouh, F; Bahaa, M. ; Abdelaal, A; Fathy, M; El-Meteini, Mahmoud | Affiliations | Faculty of Medicine ; Faculty of Medicine | Keywords | Living donor liver transplant; ornithine transcarbamylase deficiency; DEFICIENCY; CARRIER; MOTHER | Issue Date | Apr-2013 | Publisher | WILEY | Journal | American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons | ISSN | 1600-6135 | DOI | 10.1111/ajt.12146 | PubMed ID | 23551631 | Web of science ID | WOS:000316911900036 |
Recommend this item
Similar Items from Core Recommender Database
Items in Ain Shams Scholar are protected by copyright, with all rights reserved, unless otherwise indicated.