title: Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation.
abstract: Type II citrullinemia is an adult-onset hepatocerebral disease caused by a deficiency of argininosuccinate synthetase in liver. A 25-year-old Japanese man suddenly developed encephalopathy, showing disorientation and flapping tremor. Plasma concentrations of ammonia and citrulline were extremely high, and hepatic argininosuccinate synthetase activity was deficient. The patient's condition deteriorated rapidly in spite of intensive medications. Therefore, we performed a partial liver transplantation using a graft obtained from his healthy 61-year-old father. After surgery, his neurological symptoms soon disappeared and plasma levels of ammonia and citrulline were normalized within 3 months after operation. Type II citrullinemia is one fulminant form of various liver-based metabolic diseases, and immediate liver transplantation is necessary to rescue patients with this disease. As liver transplantation from cadaveric donor is still not possible in Japan, it seems justifiable to use living related partial liver transplantation for our patient.
authors.affiliation: Third Department of Internal Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yazaki
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
authors.forename: Y
authors.initials: Y
authors.lastname: Takei
authors.forename: N
authors.initials: N
authors.lastname: Yanagisawa
authors.forename: H
authors.initials: H
authors.lastname: Matsunami
authors.forename: Y
authors.initials: Y
authors.lastname: Hashikura
authors.forename: S
authors.initials: S
authors.lastname: Kawasaki
authors.forename: M
authors.initials: M
authors.lastname: Makuuchi
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: T
authors.initials: T
authors.lastname: Saheki
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000601:surgery; D001124:Argininosuccinate Synthase / Q000172:deficiency*; D006501:Hepatic Encephalopathy / Q000601:surgery*; D006801:Humans; D008099:Liver / Q000201:enzymology; D016031:Liver Transplantation; D008297:Male; D014019:Tissue Donors; D016896:Treatment Outcome
chemical_list: D001124:Argininosuccinate Synthase