title: Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy.
abstract: We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.
authors.affiliation: Department of Pediatrics, Second Department of Surgery, and Division of Diagnostic Pathology, Gunma University School of Medicine, Maebashi, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Tomomasa
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
authors.forename: H
authors.initials: H
authors.lastname: Kaneko
authors.forename: H
authors.initials: H
authors.lastname: Shimura
authors.forename: T
authors.initials: T
authors.lastname: Fukusato
authors.forename: M
authors.initials: M
authors.lastname: Tabata
authors.forename: Y
authors.initials: Y
authors.lastname: Inoue
authors.forename: S
authors.initials: S
authors.lastname: Ohwada
authors.forename: M
authors.initials: M
authors.lastname: Kasahara
authors.forename: Y
authors.initials: Y
authors.lastname: Morishita
authors.forename: M
authors.initials: M
authors.lastname: Kimura
authors.forename: T
authors.initials: T
authors.lastname: Saheki
authors.forename: A
authors.initials: A
authors.lastname: Morikawa
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002675:Child, Preschool; D020159:Citrullinemia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005234:Fatty Liver / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction