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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient
American Journal of Transplantation, Volume 13, No. 4, Year 2013
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Description
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. © Copyright 2013 The American Society of Transplantation and the American Society of Transplant Surgeons.
Authors & Co-Authors
Mukhtar, Ahmed M.
Egypt, Cairo
Faculty of Medicine
Dabbous, Hany M.
Egypt, Cairo
Faculty of Medicine - Ain Shams University
El-Sayed, Riham H.
Egypt, Cairo
Faculty of Medicine
Aboulfetouh, F.
Egypt, Cairo
Faculty of Medicine
Bahaa, Mohamed M.
Egypt, Cairo
Faculty of Medicine - Ain Shams University
Abdelaal, Amr A.
Egypt, Cairo
Faculty of Medicine - Ain Shams University
Fathy, Mohamed
Egypt, Cairo
Faculty of Medicine - Ain Shams University
El-Meteini, Mahmoud Shawky
Egypt, Cairo
Faculty of Medicine - Ain Shams University
Statistics
Citations: 16
Authors: 8
Affiliations: 2
Identifiers
Doi:
10.1111/ajt.12146
ISSN:
16006135
e-ISSN:
16006143
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Participants Gender
Female