citrin deficiency

シトリン欠損症

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1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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• 1. 新生児胆汁うっ滞の原因 causes of neonatal cholestasis
• 2. 尿素サイクル障害：臨床的特徴および診断 urea cycle disorders clinical features and diagnosis
• 3. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies

English Journal

• Malfunction in Mitochondrial β-Oxidation Contributes to Lipid Accumulation in Hepatocyte-Like Cells Derived from Citrin Deficiency-Induced Pluripotent Stem Cells.

• Kim Y1,2, Choi JY2,3, Lee SH4, Lee BH5, Yoo HW5, Han YM1,2.
• Stem cells and development.Stem Cells Dev.2016 Apr 15;25(8):636-47. doi: 10.1089/scd.2015.0342. Epub 2016 Mar 30.
• Citrin deficiency (CD) is a recessive genetic disorder caused by mutations in the citrin gene SLC25A13. CD causes various symptoms related to nutrient metabolism such as urea cycle failure, abnormal amino acid levels, and fatty liver. To understand the pathophysiology of CD, the molecular phenotypes
• PMID 26914390

• Chronic hepatitis without hepatic steatosis caused by citrin deficiency in a child.

• Inui A1, Hashimoto T1,2, Sogo T1, Komatsu H3, Saheki T4, Fujisawa T1.
• Hepatology research : the official journal of the Japan Society of Hepatology.Hepatol Res.2016 Apr;46(4):357-62. doi: 10.1111/hepr.12559. Epub 2015 Aug 18.
• Citrin deficiency manifests as both neonatal intrahepatic cholestasis (NICCD) during early infancy and adult-onset type II citrullinemia during adulthood. Hepatic steatosis is most frequently observed in patients with citrin deficiency. Thus, non-alcoholic fatty liver disease that is unrelated to be
• PMID 26190322

• Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.

• Togawa T1, Sugiura T2, Ito K1, Endo T1, Aoyama K1, Ohashi K1, Negishi Y1, Kudo T3, Ito R3, Kikuchi A4, Arai-Ichinoi N4, Kure S4, Saitoh S1.
• The Journal of pediatrics.J Pediatr.2016 Apr;171:171-177.e4. doi: 10.1016/j.jpeds.2016.01.006. Epub 2016 Feb 5.
• OBJECTIVES: To ascertain a molecular genetic diagnosis for subjects with neonatal/infantile intrahepatic cholestasis (NIIC) by the use of next-generation sequencing (NGS) and to perform a genotype-phenotype correlation.STUDY DESIGN: We recruited Japanese subjects with NIIC who had no definitive mole
• PMID 26858187

Japanese Journal

• 新生児胆汁うっ滞--新生児肝炎およびシトリン欠損症による新生児肝内胆汁うっ滞(NICCD)を中心として (特集 これが大切! 1カ月以内の新生児疾患) -- (見落としてはならない重症疾患・対応に迷う疾患)

• 田澤 雄作
• 小児科診療 74(4), 638-644, 2011-04
• NAID 40018758355

• The Characteristics of Food Intake in Patients with Type II Citrullinemia

• NAKAMURA Mio,YAZAKI Masahide,KOBAYASHI Yumiko,FUKUSHIMA Kazuhiro,IKEDA Shu-ichi,KOBAYASHI Keiko,SAHEKI Takeyori,NAKAYA Yutaka
• Journal of Nutritional Science and Vitaminology 57(3), 239-245, 2011
• … Some patients with citrin deficiency caused by SLC25A13 gene mutations develop adult-onset type II citrullinemia (CTLN2) with hepatic encephalopathy. … A recent nutritional survey of 18 citrin-deficient subjects (age 1-33 y) confirmed a marked decrease in carbohydrate intake compared to an age-matched general Japanese population. …
• NAID 130001003505

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★リンクテーブル★

リンク元	「シトリン欠損症」
関連記事	「deficiency」

「シトリン欠損症」

　　[★]

英

citrin deficiency

関

シトリン

参考

• 1.

http://www.jspghan.org/icterus/01/1-2-7.html

• 2. MedGen

http://www.ncbi.nlm.nih.gov/medgen/?term=%22citrin%20deficiency%22

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve