disorder of urea cycle metabolism

尿素サイクル代謝異常症

WordNet

1. pass through a cycle; "This machine automatically cycles"
2. an interval during which a recurring sequence of events occurs; "the never-ending cycle of the seasons" (同)rhythm, round
3. recur in repeating sequences
4. a single complete execution of a periodically repeated phenomenon; "a year constitutes a cycle of the seasons" (同)oscillation
5. a periodically repeated sequence of events; "a cycle of reprisal and retaliation"
6. a series of poems or songs on the same theme; "Schuberts song cycles"
7. cause to go through a recurring sequence; "cycle the laundry in this washing program"
8. bring disorder to (同)disarray
9. a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time" (同)upset
10. a disturbance of the peace or of public order
11. the chief solid component of mammalian urine; synthesized from ammonia and carbon dioxide and used as fertilizer and in animal feed and in plastics (同)carbamide
12. the organic processes (in a cell or organism) that are necessary for life (同)metabolic_process

PrepTutorEJDIC

1. 『周期』,循環期;一巡り / 周波,サイクル / (英雄・伝説などを扱った)一連の詩(物語) / 『自転車』;三輪車;オートバイ / 自転車に乗る / 循環する,反復する
2. 〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる
3. 《所有・所属》…『の』,…のものである,…に属する・《材料・要素》…『でできた』,から成る・《部分》…『の』[『中の』] ・《数量・単位・種類を表す名詞に付いて》…の・《原因・動機》…『で』,のために(because of) ・《主格関係》…『の』,による,によって・《目的格関係》…『を』,の・《同格関係》…『という』・《関係・関連》…『についての』[『の』],の点で・《抽象名詞などと共に》…の[性質をもつ] ・《『It is』+『形』+『of』+『名』+『to』 doの形で,ofの後の名詞を意味上の主語として》・《分離》…『から』・《起原・出所》…『から』[『の』](out of) ・《『名』+『of』+『a』(『an』)+『名』の形で》…のような・《『名』+『of』+『mine』(『yours, his』など独立所有格)の形で》…の…・《時》(1)《副詞句を作って》…に《形容詞句を作って》…の・《時刻》《米》…前(to,《米》before)
4. 尿素(にょうそ)
5. 新陳代謝,物質交代

UpToDate Contents

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• 1. 尿素サイクル障害：管理 urea cycle disorders management
• 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. 遺伝性運動失調の概要 overview of the hereditary ataxias
• 4. 先天性代謝異常：分類 inborn errors of metabolism classification
• 5. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies

English Journal

• Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn N-acetylglutamate synthase deficiency.

• Schwob E1, Hagos Y2, Burckhardt G1, Burckhardt BC3.
• American journal of physiology. Renal physiology.Am J Physiol Renal Physiol.2014 Oct 29:ajprenal.00482.2014. doi: 10.1152/ajprenal.00482.2014. [Epub ahead of print]
• Inborn defects in the N-acetylglutamate synthase (NAGS) cause a reduction of N-acetylglutamate (NAG), an essential cofactor for the initiation of the urea cycle. As a consequence, blood ammonium concentrations are elevated, leading to severe neurological disorders. The orphan drug, N-carbamoylglutam
• PMID 25354943

• Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism ¿ a systematic review.

• Zeltner NA, Huemer M, Baumgartner MR, Landolt MA.
• Orphanet journal of rare diseases.Orphanet J Rare Dis.2014 Oct 25;9(1):159. [Epub ahead of print]
• BackgroundIn recent decades, considerable progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD), organic acidurias (OA), maple syrup urine disease (MSUD), or tyrosinemia type 1 (TYR 1) has resulted in a growing
• PMID 25344299

• Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression.

• Hu L1, Diez-Fernandez C2, Rüfenacht V3, Hismi BO4, Unal O5, Soyucen E6, Coker M7, Bayraktar BT8, Gunduz M9, Kiykim E10, Olgac A11, Pérez-Tur J12, Rubio V13, Häberle J14.
• Molecular genetics and metabolism.Mol Genet Metab.2014 Oct 7. pii: S1096-7192(14)00309-6. doi: 10.1016/j.ymgme.2014.09.014. [Epub ahead of print]
• Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessive urea cycle disorder causing hyperammonemia that can lead to death or severe neurological impairment. CPS1 catalyzes carbamoyl phosphate formation from ammonia, bicarbonate and two molecules of ATP,
• PMID 25410056

Japanese Journal

• 健常新生児および尿素サイクル異常症における尿中ピリミジン分析

• 鷲見 聡,大場 悟,伊藤 哲哉,大久保 由美子,植田 昭仁,加藤 稲子,戸苅 創
• 痛風と核酸代謝 = Gout and nucleic acid metabolism
• NAID 10016949802

• 健常新生児および尿素サイクル異常症における尿中ピリミジン分析

• 鷲見 聡,大場 悟,伊藤 哲哉,大久保 由美子,植田 昭仁,加藤 稲子,戸苅 創
• 痛風と核酸代謝 29(2), 127-131, 2005
• … We measured urinary pyrimidines in 23 healthy newborns on 6 successive days after birth (from day 0 to day 6) and at 1month of age. … We also analyzed newborns with urea cycle disorders including ornithine transcarbamylase (OTC) deficiency. …
• NAID 130004714939

• 先天性アミノ酸代謝異常症に伴う高アンモニア血症の成因に関する研究　第II編　二塩基性アミノ酸尿症に伴う高アンモニア血症の成因

• 十川 英明
• 1978-04-01
• … The purpose of this study is to investigate the etiology of hyperammonemia in the patients with E yperdibasicaminoaciduria. … A persistent hyperdibasicaminoaciduria was the most characteristic finding, probably being due to the impairment of renal tubular reabsorption associated with defective intestinal absorption. … Serum levels of the affected amino acids were consistently lower than those of the control subjects. …
• NAID 120002081524

Related Links

• What is a Urea Cycle Disorder? - Welcome to the National ...

The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to a compound called urea in the blood. Normally, the urea is transferred ...

• Disorder of the urea cycle metabolism - Conditions - GTR - NCBI

The urea cycle disorders (UCD) result from defects in the metabolism of waste nitrogen from the breakdown of protein and other nitrogen-containing molecules. Severe deficiency or total absence of activity of any of the first four ...

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★リンクテーブル★

リンク元	「尿素サイクル代謝異常症」
関連記事	「disorder」「cycle」「urea cycle」「cycling」

「尿素サイクル代謝異常症」

　　[★]

英

disorder of urea cycle metabolism, urea cycle disorders

関

尿素サイクル

「disorder」

　　[★]

• 障害：個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)

• n.

• an untidy state; a lack of order or organization (⇔order)
• violent behaviour of large groups of people
• an illness that cause a part of the body to stop functioning correctly

• 注意

disease <> illness <> disorder

• vt.

• 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。

• vi.

　 　 　 　

「cycle」

　　[★]

• サイクル、周期、回路

関

circuit

　 　 　 　 　 　 　 　

「urea cycle」

　　[★] オルニチン回路。尿素サイクル

「cycling」

　　[★]

• サイクリング