Chronic Pancreatitis Associated with Adult-Onset Type II Citrullinemia: Clinical and Pathologic Findings
Authors: Shu-ichi Ikeda, Shigeyuki Kawa, Yo-ichi Takei, Kanji Yamamoto, Hisashi Shimojo, Ken-ichi Tabata, Keiko Kobayashi, Takeyori Saheki
Journal: Annals of Internal Medicine (2004)

Letters5 October 2004Chronic Pancreatitis Associated with Adult-Onset Type II Citrullinemia: Clinical and Pathologic FindingsShu-ichi Ikeda, MD, Shigeyuki Kawa, MD, Yo-ichi Takei, MD, Kanji Yamamoto, MD, Hisashi Shimojo, MD, Ken-ichi Tabata, MD, Keiko Kobayashi, PhD, and Takeyori Saheki, MDShu-ichi Ikeda, MDFrom Shinshu University School of Medicine, Matsumoto 390-8621, Japan; Saku General Hospital, Usuda 384-0393, Japan; and Kagoshima University; Kagoshima 890-8520, Japan., Shigeyuki Kawa, MDFrom Shinshu University School of Medicine, Matsumoto 390-8621, Japan; Saku General Hospital, Usuda 384-0393, Japan; and Kagoshima University; Kagoshima 890-8520, Japan., Yo-ichi Takei, MDFrom Shinshu University School of Medicine, Matsumoto 390-8621, Japan; Saku General Hospital, Usuda 384-0393, Japan; and Kagoshima University; Kagoshima 890-8520, Japan., Kanji Yamamoto, MDFrom Shinshu University School of Medicine, Matsumoto 390-8621, Japan; Saku General Hospital, Usuda 384-0393, Japan; and Kagoshima University; Kagoshima 890-8520, Japan., Hisashi Shimojo, MDFrom Shinshu University School of Medicine, Matsumoto 390-8621, Japan; Saku General Hospital, Usuda 384-0393, Japan; and Kagoshima University; Kagoshima 890-8520, Japan., Ken-ichi Tabata, MDFrom Shinshu University School of Medicine, Matsumoto 390-8621, Japan; Saku General Hospital, Usuda 384-0393, Japan; and Kagoshima University; Kagoshima 890-8520, Japan., Keiko Kobayashi, PhDFrom Shinshu University School of Medicine, Matsumoto 390-8621, Japan; Saku General Hospital, Usuda 384-0393, Japan; and Kagoshima University; Kagoshima 890-8520, Japan., and Takeyori Saheki, MDFrom Shinshu University School of Medicine, Matsumoto 390-8621, Japan; Saku General Hospital, Usuda 384-0393, Japan; and Kagoshima University; Kagoshima 890-8520, Japan.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-141-7-200410050-00028-w1 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:Background: Adult-onset type II citrullinemia is a urea cycle disorder attributed to a deficiency of argininosuccinate synthetase in the liver (1). A mutation of the citrin gene is responsible for the development of this disease (2, 3). Clinically, patients have recurrent episodes with hepatic encephalopathy, and some patients with this disease seem to have had previous pancreatitis (4).Objective: To clarify the clinicopathologic characteristics of pancreatitis in association with type II citrullinemia.Methods and Findings: Three male patients met the diagnostic criteria for type II citrullinemia: high concentrations of plasma ammonia and citrulline and slight increases in ...References1. Saheki T, Ueda A, Hosoya M, Kusumi K, Takada S, Tsuda M, et al . Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia. Clin Chim Acta. 1981;109:325-35. [PMID: 6784969] CrossrefMedlineGoogle Scholar2. Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, et al . The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet. 1999;22:159-63. [PMID: 10369257] CrossrefMedlineGoogle Scholar3. Palmieri L, Pardo B, Lasorsa FM, del Arco A, Kobayashi K, Iijima M, et al . Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. EMBO J. 2001;20:5060-9. [PMID: 11566871] CrossrefMedlineGoogle Scholar4. Ikeda S, Yazaki M, Takei Y, Ikegami T, Hashikura Y, Kawasaki S, et al . Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation. J Neurol Neurosurg Psychiatry. 2001;71:663-70. [PMID: 11606680] CrossrefMedlineGoogle Scholar5. Etemad B, Whitcomb DC. Chronic pancreatitis: diagnosis, classification, and new genetic developments. Gastroenterology. 2001;120:682-707. [PMID: 11179244] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: From Shinshu University School of Medicine, Matsumoto 390-8621, Japan; Saku General Hospital, Usuda 384-0393, Japan; and Kagoshima University; Kagoshima 890-8520, Japan. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byLiving Donor Liver Transplantation in a Paediatric Patient With Citrullinaemia Type 2AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic ProceduresChronic pancreatitis and pancreatic pseudocyst with adult-onset type II citrullinemiaCurrent treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiencyChronic hepatitis without hepatic steatosis caused by citrin deficiency in a childSteatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARαGenetic Diseases That Predispose to Early Liver CirrhosisPrediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiencyPatient with adult-onset type II citrullinemia beginning 2 years after operation for duodenal malignant somatostatinoma: Indication for liver transplantationEffects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiencyMetabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiencyLiver Transplantation in an Adult with Citrullinaemia Type 2Citrin deficiency and current treatment conceptsCitrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver diseasePrimary Liver Carcinoma Exhibiting Dual Hepatocellular-Biliary Epithelial Differentiations Associated With Citrin DeficiencyIdentification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiencyCitrin/Mitochondrial Glycerol-3-phosphate Dehydrogenase Double Knock-out Mice Recapitulate Features of Human Citrin DeficiencyHomozygous SLC25A13 Mutation in a Taiwanese Patient with Adult-onset Citrullinemia Complicated with Steatosis and Hepatocellular CarcinomaFrequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency 5 October 2004Volume 141, Issue 7Page: W-109-W-110KeywordsAmmoniaArginineBlood plasmaBrain diseasesChronic pancreatitisConsciousnessLigasesPancreasPancreatitisResearch laboratories ePublished: 5 October 2004 Issue Published: 5 October 2004 Copyright & PermissionsCopyright © 2004 by American College of Physicians. 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