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A Novel Mutation of the Ornithine Transcarbamylase Gene Leading to Fatal Hyperammonemia in a Liver Transplant Recipient
Author(s) -
Mukhtar A.,
Dabbous H.,
El Sayed R.,
Aboulfetouh F.,
Bahaa M.,
Abdelaal A.,
Fathy M.,
ElMeteini M.
Publication year - 2013
Publication title -
american journal of transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.89
H-Index - 188
eISSN - 1600-6143
pISSN - 1600-6135
DOI - 10.1111/ajt.12146
Subject(s) - hyperammonemia , ornithine transcarbamylase deficiency , ornithine transcarbamylase , medicine , urea cycle , asymptomatic , nonsense mutation , liver disease , ornithine carbamoyltransferase , gene mutation , endocrinology , gastroenterology , mutation , ornithine , genetics , gene , missense mutation , biology , amino acid , arginine
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.