Lesch-Nyhan syndrome

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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2016/08/26 15:45:51」(JST)

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  • Oral self-injury. An update.
  • Limeres J, Feijoo JF, Baluja F, Seoane JM, Diniz M, Diz P.SourceSpecial Needs Unit, School of Medicine and Dentistry, Santiago de Compostela University, Spain Department of Stomatology, School of Medicine and Dentistry, Santiago de Compostela University, Spain.
  • Dental traumatology : official publication of International Association for Dental Traumatology.Dent Traumatol.2012 Feb 20. doi: 10.1111/j.1600-9657.2012.01121.x. [Epub ahead of print]
  • Abstract -  Background: Self-inflicted oral injuries of organic origin are particularly common in certain diseases, syndromes, and systemic disorders. In this article, we discuss the characteristics of these oral lesions and their treatment. Literature Search: The authors have reviewed the mos
  • PMID 22340154
  • Successful unrelated umbilical cord blood transplantation in Lesch-Nyhan syndrome.
  • Kállay K, Liptai Z, Benyó G, Kassa C, Goda V, Sinkó J, Tóth A, Kriván G.SourcePediatric Hematology and Stem Cell Transplantation Unit, United St. István and St. László Hospital, Gyáli street 5-7, Budapest, 1097, Hungary, kallay@ossejt.org.
  • Metabolic brain disease.Metab Brain Dis.2012 Feb 17. [Epub ahead of print]
  • Lesch-Nyhan syndrome (LNS) is a chronic, progressive neurodevelopmental disorder causing motor and behavioral dysfunction due to decreased synthesis of the enzyme hypoxantine-guanine phosphoribosyltransferase (HPRT). Affected boys have mental retardation, delayed development, extrapyramidal motor di
  • PMID 22350962
  • Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.
  • Fu R, Jinnah HA.SourceDepartment of Neurology, Emory University, Atlanta, Georgia 30322, USA.
  • The Journal of biological chemistry.J Biol Chem.2012 Jan 27;287(5):2997-3008. Epub 2011 Dec 7.
  • Lesch-Nyhan disease and its attenuated variants are caused by mutations in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase. The mutations are heterogeneous, with more than 400 different mutations already documented. Prior efforts to correlate
  • PMID 22157001
  • Pallidal deep-brain stimulation associated with complete remission of self-injurious behaviors in a patient with Lesch-Nyhan syndrome: a case report.
  • Deon LL, Kalichman MA, Booth CL, Slavin KV, Gaebler-Spira DJ.SourceRehabilitation Institute of Chicago, Chicago, IL 60611, USA.
  • Journal of child neurology.J Child Neurol.2012 Jan;27(1):117-20. Epub 2011 Sep 22.
  • The purpose of this case report is to review the management of a boy with Lesch-Nyhan syndrome with deep-brain stimulation who had remission of self-injurious behaviors as a result. This patient was treated with intrathecal baclofen and, later, with deep-brain stimulation to reduce hypertonia. Goals
  • PMID 21940691


  • A Case Report of Lesch-Nyhan Syndrome with Self Oral Destruction Treatment
  • 蔡 鵬飛,間宮 秀樹,一戸 達也,金子 譲
  • 障害者歯科 31(3), 449, 2010-09-30
  • NAID 10026706353
  • 先天性プリン代謝異常症による高尿酸血症 HPRT欠損症 (特集 高尿酸血症・痛風Update) -- (高尿酸血症診療の最新動向 原発性高尿酸血症の病因・診断法研究の進歩)






hypoxanthine-guanine phosphoribosyltransferase HGPRT
ヒポキサンチンホスホリボシルトランスフェラーゼ hypoxanthine phosphoribosyltransferase, HPRT
アデニンホスホリボシルトランスフェラーゼ APRT
  • プリンヌクレオチド合成系路におけるサルベージ経路で機能する ⇔ de novo経路(リボース5-リン酸から始まるプリン合成系路)
  • 以下の反応を触媒。
ヒポキサンチン + PRPP ←(HGPRT)→ IMP + PPi
グアニン    + PRPP ←(HGPRT)→ GMP + PPi
アデニン    + PRPP ←(APRT)→ AMP + PPi




X-linked recessive disorder

X-linked recessive disorders (first aid step p.109)

Female carriers of X-linked recessive disorders are rarely affected because of random inactivation of X chromosomes in each cell.



Lesch-Nyhan syndrome LNS
レッシュ・ナイハン病 Lesch-Nyhan disease LNDLesch-Nyhan症候群、若年性高尿酸血症症候群 juvenile hyperuricemiasyndrome
  • HGPRTの活性低下により生じる (FB.472)
  • プリンのサルベージ経路が機能しなくなる
  • 大量の尿酸を産生する
  • X染色体連鎖劣性遺伝
  • けいれん、知能の後れ(mental retardation)などの精神症状
  • 破壊的自傷行動(self-mutilation)を示す



  • n.

WordNet   license wordnet

「a pattern of symptoms indicative of some disease」

WordNet   license wordnet

「a complex of concurrent things; "every word has a syndrome of meanings"」

PrepTutorEJDIC   license prepejdic

「(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態」