WordNet

(meat) cooked until there is just a little pink meat inside
(biology) a substance in which specimens are preserved or displayed
a liquid with which pigment is mixed by a painter
a state that is intermediate between extremes; a middle position; "a happy medium"
an intervening substance through which something is achieved; "the dissolving medium is called a solvent"
(usually plural) transmissions that are disseminated widely to the public (同)mass medium
someone who serves as an intermediary between the living and the dead; "he consulted several mediums" (同)spiritualist, sensitive
a means or instrumentality for storing or communicating information
an intervening substance through which signals can travel as a means for communication
the surrounding environment; "fish require an aqueous medium"
the 3rd letter of the Roman alphabet (同)c
(music) the keynote of the scale of C major
a general-purpose programing language closely associated with the UNIX operating system
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

中間(中程度)にあるもの,中庸(mean) / 媒介物,媒体 / 《複数形mediaで》=mass media / 『手段』,方法(means) / (芸術の)表現手段,手法 / (動植物がそこで生存し機能を発揮する)環境;(細菌の)培地,培養基 / 霊媒者 / 『中間の』,並みの
《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)
〈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
carbonの化学記号
(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

UpToDate Contents

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1. 特定の脂肪酸酸化障害specific fatty acid oxidation disorders [show details]
…dehydrogenase (SCHAD) deficiencies Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common FAOD in Caucasians in Northern Europe and the United States. While nearly all MCADD is detected now …
2. 脂肪酸酸化障害の概要overview of fatty acid oxidation disorders [show details]
… therapy strategies have been explored in VLCADD, medium-chain acyl-CoA dehydrogenase deficiency (MCADD), and short-chain acyl-CoA dehydrogenase deficiency (SCADD) . As an example, gene therapy with a recombinant …
3. 乳児および小児における低血糖症の原因causes of hypoglycemia in infants and children [show details]
… include phosphomannomutase 2 deficiency , phosphoglucomutase 1 deficiency , and mannosephosphate isomerase deficiency Fatty acid oxidation disorders… the mitochondria ; the most common is medium-chain acyl-CoA dehydrogenase deficiency (MCADD; ),…
4. てんかん治療としてのケトン食療法ketogenic dietary therapies for the treatment of epilepsy [show details]
… patients to prevent stones . Selenium deficiency – Selenium deficiency has been found in up to approximately 50 percent of children on KDTs . Selenium deficiency has rarely produced an irreversible cardiomyopathy …
5. 妊娠時の急性脂肪肝acute fatty liver of pregnancy [show details]
…acyl-CoA dehydrogenase deficiency . Medium-chain acyl-CoA dehydrogenase deficiency . Carnitine palmitoyltransferase deficiency . Mitochondrial trifunctional protein deficiency . Acute fatty liver of …

English Journal

Glucose-6-Phosphate Dehydrogenase Deficiency Mimicking Atypical Hemolytic Uremic Syndrome.

Walsh PR1, Johnson S2, Brocklebank V1, Salvatore J1, Christian M3, Kavanagh D4.
American journal of kidney diseases : the official journal of the National Kidney Foundation.Am J Kidney Dis.2018 Feb;71(2):287-290. doi: 10.1053/j.ajkd.2017.08.007. Epub 2017 Dec 13.
PMID 29248304

Gene of the month: SDH.

Aldera AP1, Govender D1.
Journal of clinical pathology.J Clin Pathol.2018 Feb;71(2):95-97. doi: 10.1136/jclinpath-2017-204677. Epub 2017 Oct 25.
PMID 29070651

A novel approach using metabolomics coupled with hematological and biochemical parameters to explain the enriching-blood effect and mechanism of unprocessed Angelica sinensis and its 4 kinds of processed products.

Ji P1, Wei Y2, Hua Y1, Zhang X1, Yao W1, Ma Q1, Yuan Z1, Wen Y1, Yang C1.
Journal of ethnopharmacology.J Ethnopharmacol.2018 Jan 30;211:101-116. doi: 10.1016/j.jep.2017.09.028. Epub 2017 Sep 25.
PMID 28958590

★リンクテーブル★

リンク元	「中鎖アシルCoA脱水素酵素欠損症」
関連記事	「deficiency」「C」「medium」「CoA」「dehydrogenase」

「中鎖アシルCoA脱水素酵素欠損症」

　　[★]

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

中鎖アシルCoA脱水素酵素の欠損

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

常染色体劣性遺伝

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。