title: A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient.
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.
authors.affiliation: Department of Anesthesia and Critical Care, Cairo University, Egypt.
authors.forename: A
authors.initials: A
authors.lastname: Mukhtar
authors.affiliation: Ain-Shams Center for Organ Transplant (ASCOT), Ain Shams University, Cairo, Egypt.
authors.forename: H
authors.initials: H
authors.lastname: Dabbous
authors.affiliation: Department of Clinical and Chemical Pathology, Cairo University, Egypt.
authors.forename: R
authors.initials: R
authors.lastname: El Sayed
authors.affiliation: Department of Anesthesia and Critical Care, Cairo University, Egypt.
authors.forename: F
authors.initials: F
authors.lastname: Aboulfetouh
authors.affiliation: Ain-Shams Center for Organ Transplant (ASCOT), Ain Shams University, Cairo, Egypt.
authors.forename: M
authors.initials: M
authors.lastname: Bahaa
authors.affiliation: Ain-Shams Center for Organ Transplant (ASCOT), Ain Shams University, Cairo, Egypt.
authors.forename: A
authors.initials: A
authors.lastname: Abdelaal
authors.affiliation: Ain-Shams Center for Organ Transplant (ASCOT), Ain Shams University, Cairo, Egypt.
authors.forename: M
authors.initials: M
authors.lastname: Fathy
authors.affiliation: Ain-Shams Center for Organ Transplant (ASCOT), Ain Shams University, Cairo, Egypt.
authors.forename: M
authors.initials: M
authors.lastname: El-Meteini
mesh_terms: D000328:Adult; D001929:Brain Edema / Q000175:diagnosis; D018389:Codon, Nonsense; D017809:Fatal Outcome; D005260:Female; D006579:Heterozygote; D006801:Humans; D022124:Hyperammonemia / Q000235:genetics* / Q000628:therapy; D008099:Liver / Q000473:pathology; D017093:Liver Failure / Q000628:therapy*; D016031:Liver Transplantation / Q000009:adverse effects*; D008297:Male; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis / Q000235:genetics*; D006435:Renal Dialysis; D035781:Siblings
chemical_list: D018389:Codon, Nonsense; D009954:Ornithine Carbamoyltransferase