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Strategy for prevention of development of CTLN2 in patients with citrin deficiency

Research Project

Project/Area Number 18591138
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

OHURA Toshihiro  Tohoku University, Department of Pediatrics, Tohoku University School of Medicine, Associate Professor (10176828)

Co-Investigator(Kenkyū-buntansha) YAMAGUCHI Seiji  Department of Pediatrics, Shimane University School of Medicine, Professor (60144044)
KURE Shigeo  Department of Medical Genetics, Tohoku University School of Medicine, Associate Professor (10205221)
SAKAMOTO Osamu  Department of Pediatrics, Tohoku University School of Medicine, Assistant Professor (20333809)
Project Period (FY) 2006 – 2007
Project Status Completed (Fiscal Year 2007)
Budget Amount *help
¥2,670,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥270,000)
Fiscal Year 2007: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2006: ¥1,500,000 (Direct Cost: ¥1,500,000)
Keywordscitrin / citrullinemia / SLC25A13 / Newborn screening / neonatal intrahepatic cholestasis / NICCD / CTLN2 / 低炭水化物食
Research Abstract

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) was discovered in infants having intrahepatic cholestasis with fatty liver, but then long term outcome is not dear. 1b clarify the clinical features of NICCD, we sent a detailed questionnaire to pediatricians in charge of patients with NICCD and collected data from 75 patients. Thirty of the patients were referred to hospitals before 1 month of age because of positive results in newborn screening. The other 45, the screen-negative patients, were referred to hospitals with suspected neonatal hepatitis or biliary atresia because of jaundice or discolored stool The laboratory data obtained from the patients were similar and suggested severe cholestasis and liver damage. Most of the patients were given a lactose-fiee and/or medium chain triglyceride-enriched formula and fat-soluble vitamins. Symptoms resolved mall but two of the patients by 12 months of age. The two patients with unresolved symptoms suffered from progres … More sive liver failure and underwent liver transplantation before their first birthday. Another patient developed citrudllinemia type 2 (CTLN2) at age 16. It is important to recognize that NICCD is not always a benign condition.
Personal histories from CTLN2 patients have repeatedly described an aversion to carbohydrate-rich foods, and clinical observations of dietary and therapeutic outcomes have suggested that their unusual food preferences may be directly related to their pathophysiology. In this study, we monitored the food intake of 18 Japanese citrin-deficient subjects, comparing them against published values for the general Japanese population. Our survey confirmed a marked decrease in carbohydrate intake, which accounts for a smaller proportion of carbohydrates contributing to the total energy intake (PFC ratio) as well as a shift towards a lower percentile distribution for carbohydrate intake relative to age- and gender-matched controls. These results strongly support an avoidance of carbohydrate-rich foods by citrin-deficient patients that may lead to worsening of symptoms. Less

Report

(3 results)
  • 2007 Annual Research Report   Final Research Report Summary
  • 2006 Annual Research Report
  • Research Products

    (20 results)

All 2008 2007 2006 Other

All Journal Article (12 results) (of which Peer Reviewed: 4 results) Presentation (7 results) Remarks (1 results)

  • [Journal Article] Reduced carbohydrate intake in citrin-deficient subjects.2008

    • Author(s)
      Saheki T, Ohura T , et. al.
    • Journal Title

      J Inher Metab Dis 31(In press)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Reduced carbohydrate intake in citrin-deficient subjects2008

    • Author(s)
      T. Saheki, K. Kobayashi, M. Terashi, T. Ohura et. al.
    • Journal Title

      J Inher Metab Dis

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] シトリン欠損による新生児肝内胆汁うっ滞症(NICCD)の発見まで2008

    • Author(s)
      大浦敏博
    • Journal Title

      小児内科 40

      Pages: 139-143

    • Related Report
      2007 Annual Research Report
  • [Journal Article] Reduced carbohydrate intake in citrin-deficient subjects2008

    • Author(s)
      Saheki T., Ohura T., et. al.
    • Journal Title

      Journal of Inherited Metabolic Disease 31(in press)

    • Related Report
      2007 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes.2007

    • Author(s)
      Tokuhara D, Ohura T , et. al.
    • Journal Title

      Mol Genet Metab 90

      Pages: 30-36

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).2007

    • Author(s)
      Ohura T , et. al.
    • Journal Title

      J Inher Metab Dis 30

      Pages: 139-144

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
    • Peer Reviewed
  • [Journal Article] Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes2007

    • Author(s)
      Tokuhara D, Iijima M, Tamamori A, Ohura T et. al.
    • Journal Title

      Mol Genet Metab 90

      Pages: 30-36

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)2007

    • Author(s)
      Ohura T. Kobayashi K, Tazawa Y, Abukawa D et. al.
    • Journal Title

      J Inher Metab Dis 30

      Pages: 139-144

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Journal Article] NICCD-シトリン欠損による新生児肝内胆汁うっ滞症-2007

    • Author(s)
      坂本修、大浦敏博
    • Journal Title

      周産期医学 37

      Pages: 1346-1349

    • Related Report
      2007 Annual Research Report
  • [Journal Article] Novel diagnostic approach to citrin deficiency : Analysis of citrin protein in lymphocytes.2007

    • Author(s)
      Tokuhara D., Ohura T., Okano Y.et al.
    • Journal Title

      Mol.Genet. Metab. 90

      Pages: 30-36

    • Related Report
      2006 Annual Research Report
  • [Journal Article] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).2007

    • Author(s)
      Ohura T, Kobayashi K., Tazawa Y. et al.
    • Journal Title

      J Inher Metab Dis 30(In press)

    • Related Report
      2006 Annual Research Report
  • [Journal Article] シトリン欠損による新生児肝内胆汁うっ滞症(NICCD)-臨床像の検討2006

    • Author(s)
      大浦敏博
    • Journal Title

      日本小児科学会雑誌 110

      Pages: 2057-61

    • NAID

      10024461704

    • Related Report
      2006 Annual Research Report
  • [Presentation] シトリン欠損による新生児肝内胆汁うっ滞症(NICCD)2007

    • Author(s)
      大浦敏博
    • Organizer
      第34回日本小児栄養消化器肝臓学会
    • Place of Presentation
      仙台
    • Year and Date
      2007-10-07
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Neonatal intrahepatic cholestasis caused by citrin deficiency2007

    • Author(s)
      Ohura T
    • Organizer
      Annual meeting for Japanese Society for Pediatric Gastroenterology, Hepatology and Nutrition
    • Place of Presentation
      Sendai
    • Year and Date
      2007-10-07
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)2007

    • Author(s)
      Ohura T
    • Organizer
      International symposium for citrin deficiency.
    • Place of Presentation
      海南島,中国
    • Year and Date
      2007-08-28
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)2007

    • Author(s)
      Ohura T
    • Organizer
      International symposium for citrin deficiency
    • Place of Presentation
      Haikou, China
    • Year and Date
      2007-08-28
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] CLINICAL PICTURES OF 75 PATIENTS WITH NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY (NICCD)2007

    • Author(s)
      Ohura T. et. al
    • Organizer
      シトリン欠損症国際シンポジウム
    • Place of Presentation
      中国、海南島
    • Related Report
      2007 Annual Research Report
  • [Presentation] 新生児マススクリーニングを契機に発見されるシトリン欠損による新生児肝内胆汁うっ滞症2006

    • Author(s)
      大浦敏博
    • Organizer
      第109回日本小児科学会学術集会、シンポジウム
    • Place of Presentation
      金沢
    • Year and Date
      2006-04-22
    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Presentation] A novel inborn error of metabolism detected by newborn screening: neonatal intrahepatic cholestasis caused by citrin deficienty (NICCD)2006

    • Author(s)
      Ohura T
    • Organizer
      Annual meeting of Japan Pediatric Society
    • Place of Presentation
      Kanazawa
    • Year and Date
      2006-04-22
    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2007 Final Research Report Summary
  • [Remarks]

    • URL

      http://ped-thk.umin.jp/cgi-bin/gyoseki.cgi

    • Related Report
      2007 Annual Research Report

URL: 

Published: 2006-04-01   Modified: 2016-04-21  

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