Lesch-Nyhan disease

レッシュ・ナイハン病

WordNet

1. an impairment of health or a condition of abnormal functioning
2. caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological

PrepTutorEJDIC

1. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
2. 女性の話術芸人 =diseur
3. 病気にかかった / 病的な,不健全な(morbid)

UpToDate Contents

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• 1. 尿酸による腎疾患 uric acid renal diseases
• 2. 小児における運動過多な運動障害 hyperkinetic movement disorders in children
• 3. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
• 4. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
• 5. 脳性麻痺の診断および分類 diagnosis and classification of cerebral palsy

English Journal

• Update on the Phenotypic Spectrum of Lesch-Nyhan Disease and its Attenuated Variants.

• Torres RJ, Puig JG, Jinnah HA.SourceDivision of Clinical Biochemistry and Genetic Institute, Hospital Universitario La Paz, Universidad Autonoma de Madrid, Madrid, Spain.
• Current rheumatology reports.Curr Rheumatol Rep.2011 Dec 24. [Epub ahead of print]
• Congenital deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) results in a spectrum of clinical phenotypes. All of these phenotypes are associated with marked overproduction of uric acid and related problems such as hyperuricemia, urate nephrolithiasis, tophi, and gout. T
• PMID 22198833

• Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene.

• Sharma S, Jiménez RT, Aneja S, Garcia MG, Sethi GR.SourceDepartment of Pediatrics, Lady Hardinge Medical College and associated Kalawati Saran Children's Hospital, New Delhi, India, sharma.suvasini@gmail.com.
• Indian journal of pediatrics.Indian J Pediatr.2011 Dec 20. [Epub ahead of print]
• The authors report two brothers who presented with motor delay and stiffness. The elder boy had auto-mutilation of lips and fingers. Serum uric acid was elevated in both the children. Both the boys had undetectable hypoxanthine-guanine phosphoribosyl transferase activity in hemolysate, confirming th
• PMID 22183764

• Genotype-Phenotype Correlations in Lesch-Nyhan Disease: Moving Beyond the Gene.

• Fu R, Jinnah HA.SourceEmory University, United States.
• The Journal of biological chemistry.J Biol Chem.2011 Dec 7. [Epub ahead of print]
• Lesch-Nyhan disease (LND) and its attenuated variants are caused by mutations in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt). The mutations are heterogeneous, with more than 400 different ones already documented. Prior efforts to
• PMID 22157001

Japanese Journal

• 発達障害の遺伝子研究

• 小笠原 信明
• 聴能言語学研究 18(3), 175-181, 2001-12-25
• NAID 10009354664

• Lesch-Nyhan Disease and Related Disorders of Purine Metabolism

• NYHAN William L
• 日本先天代謝異常学会雑誌 17(2), 95, 2001-10-23
• NAID 10013199980

Related Links

• Lesch–Nyhan syndrome - Wikipedia, the free encyclopedia

As in other X-linked diseases, males are affected because they only have one copy of the X chromosome. In Lesch–Nyhan syndrome, the defective gene is that for hypoxanthine-guanine phosphoribosyltransferase (HPRT), a participant in the ...

• レッシュ・ナイハン症候群 - Wikipedia

移動： 案内, 検索. レッシュ・ナイハン症候群（レッシュ・ナイハンしょうこうぐん、Lesch- Nyhan syndrome,LNS）は、尿酸の代謝酵素に関わる遺伝子の異常によって起こる 遺伝子疾患。1964年にMichael LeschとWilliam Nyhanによって発見された。 ...

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★リンクテーブル★

リンク元	「レッシュ・ナイハン症候群」「Lesch-Nyhan病」
関連記事	「disease」

「レッシュ・ナイハン症候群」

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英

Lesch-Nyhan syndrome LNS

同

レッシュ・ナイハン病 Lesch-Nyhan disease LND、Lesch-Nyhan症候群、若年性高尿酸血症症候群 juvenile hyperuricemiasyndrome

関

先天性代謝異常症

• ヒポキサンチン・グアニンホスホリボシルトランスフェラーゼ(hypoxanthine guanine phosphoribosyl transferase, 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

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「Lesch-Nyhan病」

　　[★]

英

Lesch-Nyhan disease

関

レッシュ・ナイハン病

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder