title: Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors.
abstract: Ornithine transcarbamylase deficiency (OTCD) is a urea cycle disorder of X-linked inheritance, affecting the detoxification of excess nitrogen and leading to hyperammonemia (hyper-NH3). Living donor liver transplantation (LDLT) has been applied for the treatment of OTCD. This case series retrospectively reviewed two OTCD patients who experienced hyper-NH3following LDLT. The first case was a 5-year-old girl who had onset of OTCD at 2 years of age. Ornithine transcarbamylase (OTC) enzyme activity was 62% for the donor and 15% for the recipient. The patient suffered from recurrence of hyper-NH3within 2 months following LDLT. The second case was a 5-year-old girl who had onset of OTCD at 3 years of age. OTC enzyme activity was 42.6% for the donor and 9.7% for the recipient. The patient suffered hyper-NH3for 12 days starting on the date of surgery. Both of the patients transiently required continuous veno-venous hemodialysis; however, they are currently doing well without intensive medical treatment. The use of asymptomatic OTCD heterozygous donors in LDLT has been accepted with careful examination. However, an OTCD heterozygous carrier donor should be avoided if there is another donor candidate, due to the potentially fatal condition of hyper-NH3following LDLT.
authors.affiliation: Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Tri Hening
authors.initials: TH
authors.lastname: Rahayatri
authors.affiliation: Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Hajime
authors.initials: H
authors.lastname: Uchida
authors.affiliation: Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Kengo
authors.initials: K
authors.lastname: Sasaki
authors.affiliation: Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Takanobu
authors.initials: T
authors.lastname: Shigeta
authors.affiliation: Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Hirata
authors.affiliation: Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kanazawa
authors.affiliation: Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Vidyadhar
authors.initials: V
authors.lastname: Mali
authors.affiliation: Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Akinari
authors.initials: A
authors.lastname: Fukuda
authors.affiliation: Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Seisuke
authors.initials: S
authors.lastname: Sakamoto
authors.affiliation: Organ Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Mureo
authors.initials: M
authors.lastname: Kasahara
mesh_terms: D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D022124:Hyperammonemia / Q000150:complications* / Q000209:etiology; D008099:Liver / Q000201:enzymology; D017093:Liver Failure / Q000150:complications* / Q000601:surgery*; D016031:Liver Transplantation / Q000009:adverse effects*; D019520:Living Donors; D009954:Ornithine Carbamoyltransferase / Q000378:metabolism; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D012008:Recurrence; D006435:Renal Dialysis; D012189:Retrospective Studies
chemical_list: D009954:Ornithine Carbamoyltransferase
keywords: hyperammonemia; living donor liver transplantation; ornithine transcarbamylase