Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset ty...

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Published inThe Journal of pediatrics Vol. 138; no. 5; pp. 735 - 740
Main Authors Tazawa, Yusaku, Kobayashi, Keiko, Ohura, Toshihiro, Abukawa, Daiki, Nishinomiya, Fujihiko, Hosoda, Yoshito, Yamashita, Mariko, Nagata, Ikuo, Kono, Yumi, Yasuda, Tomotsugu, Yamaguchi, Naoki, Saheki, Takeyori
Format Journal Article
LanguageEnglish
Published New York, NY Mosby, Inc 01.05.2001
Elsevier
Subjects
Aminoacid disorders
Biological and medical sciences
Biopsy
Cholestasis - complications
Citrullinemia - complications
Citrullinemia - pathology
Errors of metabolism
Female
Humans
Infant, Newborn
Jaundice, Neonatal - complications
Liver - pathology
Medical sciences
Metabolic diseases
Molecular Sequence Data
CTLN2
ASS
Human
Disease development
Jaundice
Carbon-nitrogen ligases
Enzyme
Metabolic diseases
Argininosuccinate synthase
Infant
Urea cycle
Biliary tract disease
Enzymopathy
Genetic determinism
Genetic disease
Case study
Gene
Ligases
Cholostasis
Citrullinemia
Digestive diseases
Adult
Mutation
Aminoacid disorder
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Summary:Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease. (J Pediatr 2001;138:735-40)
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:0022-3476
1097-6833
DOI:10.1067/mpd.2001.113264