title: Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis.
abstract: Adult onset type II citrullinemia (CTLN2) is an autosomal recessive disease accompanied with hyperammonemia and a sudden onset of psychiatric disorders. We demonstrated three male patients with CTLN2 having a liver histology of non-alcoholic steatohepatitis (NASH). Patients with NASH were analyzed for the causative gene of CTLN2, SLC25A13 and discussed.
authors.affiliation: Department of Medicine and Molecular Science, Graduate School of Medicine, Gunma University, Showa-machi 3-39, Maebashi, Gunma 371-8511, Japan. htakagi@med.gunma-u.ac.jp
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Takagi
authors.forename: Satoshi
authors.initials: S
authors.lastname: Hagiwara
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Hashizume
authors.forename: Daisuke
authors.initials: D
authors.lastname: Kanda
authors.forename: Ken
authors.initials: K
authors.lastname: Sato
authors.forename: Naondo
authors.initials: N
authors.lastname: Sohara
authors.forename: Satoru
authors.initials: S
authors.lastname: Kakizaki
authors.forename: Hitomi
authors.initials: H
authors.lastname: Takahashi
authors.forename: Masatomo
authors.initials: M
authors.lastname: Mori
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Kaneko
authors.forename: Susumu
authors.initials: S
authors.lastname: Ohwada
authors.forename: Miharu
authors.initials: M
authors.lastname: Ushikai
authors.forename: Keiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Takeyori
authors.initials: T
authors.lastname: Saheki
mesh_terms: D000293:Adolescent; D000328:Adult; D020159:Citrullinemia / Q000097:blood / Q000150:complications* / Q000235:genetics; D004247:DNA / Q000235:genetics; D005234:Fatty Liver / Q000209:etiology* / Q000473:pathology; D005819:Genetic Markers; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D005819:Genetic Markers; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C119629:SLC25A13 protein, human; D004247:DNA