WordNet
- containing two carboxyls per molecule
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Dicarboxylic Acid Excretion in Normal Formula-Fed and Breastfed Infants.
- Anderson M1, Eliot K2, Kelly P2, Shoemaker J3.
- Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition.Nutr Clin Pract.2016 May 6. pii: 0884533616648330. [Epub ahead of print]
- PURPOSE: Infant formulas are often supplemented with medium-chain triglycerides (MCTs) to optimize calories for small for gestational age or preterm infants. High amounts of MCTs have been associated with an increase in dicarboxylic acid (DCA) in the urine. Elevated DCA in the urine is also a clinic
- PMID 27153855
- Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
- Sala PR1, Ruijter G2, Acquaviva C3, Chabli A4, de Sain-van der Velden MG5, Garcia-Villoria J6, Heiner-Fokkema MR7, Jeannesson-Thivisol E8, Leckstrom K9, Franzson L10, Lynes G11, Olesen J12, Onkenhout W13, Petrou P14, Drousiotou A14, Ribes A6, Vianey-Saban C3, Merinero B15.
- JIMD reports.JIMD Rep.2016 Feb 23. [Epub ahead of print]
- The analysis of acylcarnitines (AC) in plasma/serum is established as a useful test for the biochemical diagnosis and the monitoring of treatment of organic acidurias and fatty acid oxidation defects. External quality assurance (EQA) for qualitative and quantitative AC is offered by ERNDIM and CDC i
- PMID 26898293
- SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
- Maas RR1, Marina AD2, de Brouwer AP3,4, Wevers RA5, Rodenburg RJ1, Wortmann SB6.
- JIMD reports.JIMD Rep.2016;27:27-32. doi: 10.1007/8904_2015_464. Epub 2015 Sep 27.
- SUCLA2 encodes for a subunit of succinyl-coenzyme A synthase, the enzyme that reversibly synthesises succinyl-coenzyme A and ATP from succinate, coenzyme A and ADP in the Krebs cycle. Disruption of SUCLA2 function can lead to mitochondrial DNA depletion. Patients with a SUCLA2 mutation present with
- PMID 26409464
Japanese Journal
- Induction of medium chain dicarboxylic aciduria by 2-tetradecyloxiranecarboxylate(TDOC) in rat.
- YANO SHOJI
- Ｔｈｅ Ｋｕｒｕｍｅ Ｍｅｄｉｃａｌ Ｊｏｕｒｎａｌ 35(3), 107-116, 1988
- … Medium chain dicarboxylic aciduria has been induced in fasted rats by 2-tetradecyloxiranecarboxylate (TDOC), a known inhibitor of carnitine: palmitoyltransferase I. … Along with these effects, excretions of two medium chain dicarboxylic acids-sebacic and suberic acids-were also induced in the fasted rats. … A similar dicarboxylic aciduria was found in non-fasted rats given 30 mg/kg of this inhibitor. …
- NAID 130000888956
- 柿沼 宏明,カキヌマ ヒロアキ,KAKINUMA Hiroaki
- 千葉医学雑誌 63(6), 327-336, 1987
- 有機酸代謝異常症の診断を目的に,ガスクロマトグラフィ質量分析計による尿中有機酸分析法を検討した。有機酸代謝異常症のスクリーニングに応用するためにパーソナルコンピューターを導入し,有機酸の同定と定量を単純化し,病名診断を迅速化したスクリーニングシステムを開発した。22種の有機酸代謝異常症をスクリーニングするために,48種の尿中有機酸をリバースサーチ法で同定し,定量は特定イオンと内部標準として加えたヘ …
- NAID 110006181086
Related Links
- Dicarboxylic aciduria, significance and prognostic indications. Received, accepted: 25 April 1994. Abbreviations MCAD medium-chain- acyl-CoA dehydrogenase deficiency. Sir: Dicarboxylic acids (adipic, suberic, sebacic) are a by-product of ...
★リンクテーブル★
[★]
- 英
- deficiency of medium-chainacyl-CoA dehydrogenase syndrome medium-chain acyl CoA dehydrogenase deficiency medium-chain acyl-CoA dehydrogenase, deficiency of
- 同
- 中鎖アシルCoA脱水素酵素欠損症候群
- 関
- 中鎖アシルCoAデヒドロゲナーゼ、アシルCoAデヒドロゲナーゼ、脂肪酸、β酸化
概念
病因
疫学
- Northern European descentに多い
- 乳児の突然死(SIDS)の1%の約1%を占め、20%の子供が最初の発作で死亡する(Q book p.155)。
遺伝形式
病態生理
- 中鎖脂肪酸がβ酸化の最初の過程で停止する。
- 二次的にカルニチン欠乏症を呈する；蓄積したアシルCoAがカルニチンをエステル化(アシルカルニチンが生成)するため、カルニチンが消耗する → 組織でのエネルギー産生はグルコースに頼るようになる。脳は(アセチルCoAから産生される)ケトン体に依存できにくくなるので、ここでもグルコースへの依存が高まる。 → カルニチン不足ではグルコースが利用できない状況下で容易に低血糖をきたす。
症状
- 精神症状は血糖が20mg/dLで起こる(Q book p.155)。
診断
検査
治療
予後
予防
USMLE