title: [A case of adult-onset type II citrullinemia having a liver histology of nonalcoholic steatohepatitis (NASH)].
abstract: A 47-year man was hospitalized to our hospital because of consciousness disturbance. He had been abnormally fond of soy bean products since childhood. His plasma levels of ammonia and citrulline were elevated, and we suspected of adult-onset type II citrullinemia (CTLN2). Gene examination demonstrated abnormality in the SLC25A13 gene, confirming CTLN2. Serum levels of hepatobiliary enzymes were increased and his liver biopsy revealed nonalcoholic steatohepatitis. Although we considered that living donor liver transplantation was suitable for the treatment, unfortunately, there was no appropriate donor candidate in his family. He has received conservative treatments, showing a symptom-free course.
authors.affiliation: Department of Gastroenterology and Hepatology, Nara City Hospital.
authors.forename: Kohei
authors.initials: K
authors.lastname: Fukumoto
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Sumida
authors.forename: Naohisa
authors.initials: N
authors.lastname: Yoshida
authors.forename: Kyoko
authors.initials: K
authors.lastname: Sakai
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Kanemasa
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Itoh
authors.forename: Shoji
authors.initials: S
authors.lastname: Mitsufuji
authors.forename: Keisho
authors.initials: K
authors.lastname: Kataoka
authors.forename: Takeshi
authors.initials: T
authors.lastname: Okanoue
mesh_terms: D020159:Citrullinemia / Q000473:pathology*; D005234:Fatty Liver / Q000473:pathology*; D006801:Humans; D008099:Liver / Q000473:pathology*; D008297:Male; D008875:Middle Aged