urea cycle enzyme deficiency

尿素サイクル酵素欠損症

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. 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
9. any of several complex proteins that are produced by cells and act as catalysts in specific biochemical reactions
10. the sport of traveling on a bicycle or motorcycle

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〉〈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
3. 尿素(にょうそ)
4. 酵素
5. 自転車に乗ること,サイクリング

UpToDate Contents

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

English Journal

• Myocyte-mediated Arginase Expression Controls Hyperargininemia but not Hyperammonemia in Arginase-deficient Mice.

• Hu C1, Kasten J1, Park H1, Bhargava R1, Tai DS1, Grody WW2, Nguyen QG3, Hauschka SD3, Cederbaum SD4, Lipshutz GS5.
• Molecular therapy : the journal of the American Society of Gene Therapy.Mol Ther.2014 Oct;22(10):1792-802. doi: 10.1038/mt.2014.99. Epub 2014 Jun 3.
• Human arginase deficiency is characterized by hyperargininemia and infrequent episodes of hyperammonemia that cause neurological impairment and growth retardation. We previously developed a neonatal mouse adeno-associated viral vector (AAV) rh10-mediated therapeutic approach with arginase expressed
• PMID 24888478

• Neonatal citrullinemia: novel, reversible neuroimaging findings correlated with ammonia level changes.

• Ruder J1, Legacy J2, Russo G3, Davis R3.
• Pediatric neurology.Pediatr Neurol.2014 Oct;51(4):553-6. doi: 10.1016/j.pediatrneurol.2014.07.010. Epub 2014 Jul 16.
• BACKGROUND: Citrullinemia type I is an autosomal recessive disorder of the urea cycle in which a patient lacks the cytosolic enzyme, argininosuccinic acid synthetase. This enzyme deficiency results in elevated levels of ammonia, glutamine, and citrulline. The accumulation of ammonia and glutamine ca
• PMID 25266618

• m.8993T>G-Associated Leigh Syndrome with Hypocitrullinemia on Newborn Screening.

• Mori M1, Mytinger JR, Martin LC, Bartholomew D, Hickey S.
• JIMD reports.JIMD Rep.2014 Sep 21. [Epub ahead of print]
• Citrulline is among the metabolites measured by expanded newborn screening (NBS). While hypocitrullinemia can be a marker for deficiency of proximal urea cycle enzymes such as ornithine transcarbamylase (OTC), only a handful of state newborn screening programs in the United States officially report
• PMID 25240982

Japanese Journal

• オルニチントランスカルバミラーゼ欠損症が疑われた猫の1例(短報)(臨床病理学)

• 鷲巣 月美,鷲巣 誠,張 春花 [他],松元 勇,澤村 昌樹,鈴木 隆
• The journal of veterinary medical science 66(6), 701-703, 2004-06-25
• 18ヶ月齢の雌のアメリカンショートヘア種の揚が成長不良および食後の沈影を主訴に来院した.空腹時と食後の血中アンモニア濃度ならびに血清胆汁酸濃度は,それぞれ396μg/dlおよび785μg/dl. 6.5μmol/lおよび9.5μmol/lであった.門脈体循環シャントは認められず,ガスクロマトー質量分析法による尿中代謝産物の分析結果から,オルニチントランスカルバミラーゼ欠損症の可能性が示唆された.
• NAID 110003886470

• Suppressed Expression of the Urea Cycle Enzyme Genes in the Liver of Carnitine-Deficient Juvenile Visceral Steatosis (JVS) Mice in Infacncy and during Starvation in Adulthood^1

• Tomomura Mineko,Tomomura Akito,Abdullah Abu Musa Dewan [他],HORIUCHI Masahisa,TAKIGUCHI Masaki,MORI Masataka,SAHEKI Takeyori
• The journal of biochemistry 121(1), 172-177, 1997-01-01
• NAID 10005454276

• Metabolic Regulation and Transgenic Mouse.

• 森 正敬
• 日本疾患モデル学会記録 10, 3-5, 1994
• … The ornithine-urea cycle is the major pathway for detoxication of ammonia formed in amino acid metabolism and is responsible for nitrogen balance of the body. … The cycle is also involved in biosynthesis of arginine. … Ornithine transcarbamylase (OTC) catalyzes the second among the five enzymatic steps of the cycle. … The enzyme is present in the liver and to a lesser extent in the small intestine. …
• NAID 130000760786

Related Links

• Urea Cycle Disorders Overview - GeneReviews® - NCBI Bookshelf

Specific Urea Cycle Disorders (Catalytic Enzymes) NAGS deficiency. Deficiency of this enzyme has been described in a number of affected individuals. Symptoms mimic those of CPS1 deficiency, as CPS1 is rendered ...

• Urea cycle enzyme deficiency - definition of urea cycle ...

Define urea cycle enzyme deficiency. urea cycle enzyme deficiency synonyms, urea cycle enzyme deficiency pronunciation, urea cycle enzyme deficiency translation, English dictionary definition of urea cycle enzyme deficiency ...

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★リンクテーブル★

リンク元	「尿素サイクル酵素欠損症」
関連記事	「deficiency」「cycle」「urea cycle」「enzyme deficiency」「cycling」

「尿素サイクル酵素欠損症」

　　[★]

英

urea cycle enzyme deficiency

関

尿素サイクル

「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

　

「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

「enzyme deficiency」

　　[★] 酵素欠乏症、酵素欠損症

「cycling」

　　[★]

• サイクリング