carbamoyl phosphate synthase deficiency

カルバモイルリン酸シンターゼ欠損症

WordNet

1. a salt of phosphoric acid (同)orthophosphate, inorganic_phosphate
2. carbonated drink with fruit syrup and a little phosphoric acid

PrepTutorEJDIC

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
2. 〈U〉リン酸塩 / 《複数形で》リン酸肥料

UpToDate Contents

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• 1. ペルオキシソーム病 peroxisomal disorders
• 2. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
• 3. 尿素サイクル障害：管理 urea cycle disorders management
• 4. 有機酸血症 organic acidemias
• 5. バルプロ酸中毒 valproic acid poisoning

English Journal

• Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis.

• Rabinovich S1, Adler L1, Yizhak K2, Sarver A1, Silberman A1, Agron S1, Stettner N1, Sun Q3, Brandis A4, Helbling D5, Korman S6, Itzkovitz S7, Dimmock D5, Ulitsky I1, Nagamani SC3,8, Ruppin E2,9,10, Erez A1.
• Nature.Nature.2015 Nov 19;527(7578):379-83. doi: 10.1038/nature15529. Epub 2015 Nov 11.
• Cancer cells hijack and remodel existing metabolic pathways for their benefit. Argininosuccinate synthase (ASS1) is a urea cycle enzyme that is essential in the conversion of nitrogen from ammonia and aspartate to urea. A decrease in nitrogen flux through ASS1 in the liver causes the urea cycle diso
• PMID 26560030

• Teaching NeuroImages: MRI findings in carbamoyl phosphate synthetase 1 deficiency.

• Nunley S1, Ghosh D2.
• Neurology.Neurology.2015 May 5;84(18):e138-9. doi: 10.1212/WNL.0000000000001546.
• PMID 25941206

• 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 BÖ4, Ünal Ö5, Soyucen E6, Çoker M7, Bayraktar BT8, Gunduz M9, Kiykim E10, Olgac A11, Pérez-Tur J12, Rubio V13, Häberle J14.
• Molecular genetics and metabolism.Mol Genet Metab.2014 Dec;113(4):267-73. doi: 10.1016/j.ymgme.2014.09.014. Epub 2014 Oct 7.
• 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

• A case of carbamoyl phosphate synthetase 1 deficiency presenting symptoms at one month of age

• Brain & development 31(10), 779-781, 2009-11-01
• NAID 10026413113

• Early neonatal onset carbamoyl-phosphate synthase 1 deficiency treated with continuous hemodiafiltration and early living-related liver transplantation

• Pediatrics international : official journal of the Japan Pediatric Society 51(3), 409-410, 2009-06-01
• NAID 10025347102

• Identification of benzoylcarnitine in the urine of a patient of hyperammonemia.

• The Tohoku Journal of Experimental Medicine 159(2), 147-151, 1989
• NAID 130003407942

Related Links

• carbamoyl phosphate synthetase I deficiency - Genetics ...

Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed when proteins are broken down in the body, is toxic ...

• Carbamoyl Phosphate Synthetase Deficiency: Background ...

Carbamoyl phosphate synthetase (CPS) deficiency is a urea cycle defect that results from a deficiency in an enzyme that mediates the normal path for incorporation of ammonia. CPS is derived from catabolism of amino ...

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★リンクテーブル★

リンク元	「カルバモイルリン酸シンターゼ欠損症」
関連記事	「deficiency」「phosphate」「synthase」

「カルバモイルリン酸シンターゼ欠損症」

　　[★]

英

carbamoyl phosphate synthase deficiency

関

カルバモイルリン酸、オルニチン回路

• hyperammonemia.
• accumulation of organic dicarboxylic acid.

「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

　

「phosphate」

　　[★]

• n.

• (化合物)リン酸塩、リン酸エステル、ホスフェート、フォスフェート、リン酸

関

inorganic phosphate、orthophosphate、orthophosphoric acid、phospho、phosphoester、phosphoric、phosphoric acid、phosphoric acid ester、phosphorus

　 　 　

「synthase」

　　[★]

• n.

• (脱離酵素リアーゼの逆反応である合成方向の反応を指す) シンターゼ, 合成酵素, 付加酵素

関

lyase、synthetase、transferase