hydroxymethylglutaryl-CoA lyase deficiency syndrome

ヒドロキシメチルグルタリルCoAリアーゼ欠損症候群

WordNet

1. the 3rd letter of the Roman alphabet (同)c
2. (music) the keynote of the scale of C major
3. a general-purpose programing language closely associated with the UNIX operating system
4. a pattern of symptoms indicative of some disease
5. a complex of concurrent things; "every word has a syndrome of meanings"

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. carbonの化学記号
3. (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
4. cobaltの化学記号

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. クレアチン代謝の先天性疾患 congenital disorders of creatine metabolism
• 3. 尿素サイクル障害：管理 urea cycle disorders management
• 4. 高IgD症候群：病態生理 hyperimmunoglobulin d syndrome pathophysiology
• 5. スタチン：作用、副作用、および投与 statins actions side effects and administration

English Journal

• The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.

• Cardoso ML1, Rodrigues MR, Leão E, Martins E, Diogo L, Rodrigues E, Garcia P, Rolland MO, Vilarinho L.
• Molecular genetics and metabolism.Mol Genet Metab.2004 Aug;82(4):334-8.
• 3-Hydroxy-3-methylglutaric aciduria (OMIM 246450) is an autosomal recessive inborn error of the final step of leucine catabolic and ketogenic pathways, caused by deficiency of the enzyme 3-hydroxy-3-methylglutaryl CoA lyase (HL, HMGCL, EC 4.1.3.4). Clinically, deficiency of the enzyme results in met
• PMID 15308132

• [3-hydroxy-3-methylglutaric aciduria and recurrent Reye-like syndrome].

• Eirís J1, Ribes A, Fernández-Prieto R, Rodríguez-García J, Rodríguez-Segade S, Castro-Gago M.
• Revista de neurologia.Rev Neurol.1998 Jun;26(154):911-4.
• INTRODUCTION: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase) is an inborn error of ketogenesis and Leucine catabolism. HMG-CoA lyase catalyses the final step in leucine degradation, converting HMG-CoA to acetyl-CoA and acetoacetic acid. Clinical manifestations include hepatom
• PMID 9658458

• HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

• Mitchell GA1, Ozand PT, Robert MF, Ashmarina L, Roberts J, Gibson KM, Wanders RJ, Wang S, Chevalier I, Plöchl E, Miziorko H.
• American journal of human genetics.Am J Hum Genet.1998 Feb;62(2):295-300.
• The hereditary deficiency of 3-hydroxy-3-methylglutaryl (HMG) CoA lyase (HL; OMIM 246450 gov:80/htbin-post/Omim/dispmim 246450) results in episodes of hypoketotic hypoglycemia and coma and is reported to be frequent and clinically severe in Saudi Arabia. We found genetic
• PMID 9463337

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★リンクテーブル★

リンク元	「ヒドロキシメチルグルタリルCoAリアーゼ欠損症候群」
関連記事	「deficiency」「C」「CoA」「hydroxymethylglutaryl」「COA」

「ヒドロキシメチルグルタリルCoAリアーゼ欠損症候群」

　　[★]

英

hydroxymethylglutaryl-CoA lyase deficiency syndrome

関

ヒドロキシメチルグルタリルCoAリアーゼ、HMG-CoAリアーゼ

「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

　

「C」

　　[★]

• 炭素 carbon
• シトシン cytosine
• システイン cysteine
• シチジン
• セルシウス度 摂氏 degrees Celsius degree C
• 産婦人科領域で「子宮外頚 子宮外頚部 exocervix」を表現するための略語

　 　 　 　

「CoA」

　　[★]

• 大動脈縮窄症 coactation of the aorta
• 補酵素A coenzyme A

「hydroxymethylglutaryl」

　　[★]

ヒドロキシメチルグルタリル

「COA」

　　[★] 補酵素A coenzyme A CoA