同: MCAD

WordNet

fasten or secure with chains; "Chain the chairs together"
a unit of length
a necklace made by a stringing objects together; "a string of beads"; "a strand of pearls"; (同)string, strand
a linked or connected series of objects; "a chain of daisies"
a series of (usually metal) rings or links fitted into one another to make a flexible ligament
anything that acts as a restraint
(chemistry) a series of linked atoms (generally in an organic molecule) (同)chemical chain
a series of things depending on each other as if linked together; "the chain of command"; "a complicated concatenation of circumstances" (同)concatenation
(business) a number of similar establishments (stores or restaurants or banks or hotels or theaters) under one ownership
connect or arrange into a chain by linking
(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
British biochemist (born in Germany) who isolated and purified penicillin, which had been discovered in 1928 by Sir Alexander Fleming (1906-1979) (同)Ernst Boris Chain, Sir Ernst Boris Chain

PrepTutorEJDIC

『鎖』;(装飾用の)鎖 / 《複数形で》『束縛』,拘束;囚人をつなぐ鎖 / (物事の)『連続』,つながり《+『of』+『名』》 / (商店・銀行・ホテルなどの)チェーン(一連の店が同一資本のもとで連携して経営される方式;その店) / チェーン(測量で用いられる単位;約21.7m) / …'を'『鎖でつなぐ』《+『up』(『together』)+『名,』+『名』+『up』(『together』)》
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
〈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

UpToDate Contents

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1. 先天性代謝異常：分類 inborn errors of metabolism classification
2. Causes of hypoglycemia in infants and children
3. 脂質およびプリン代謝障害による代謝性ミオパチー metabolic myopathies caused by disorders of lipid and purine metabolism
4. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
5. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features

English Journal

Sleep induced abnormal motor behaviors caused by medium-chain acyl-CoA dehydrogenase deficiency: A case report.

Meng X, Mao W, Sun W, Li L, Zhan S, Wu X, Huang Z, Zhang X, Ma Y, Wang Y.SourceDepartment of Neurology, Xuanwu Hospital, Capital Medical University, No. 45 Changchunjie Road, Beijing 100053, China.
Sleep medicine.Sleep Med.2012 Jan;13(1):115-7. Epub 2011 Dec 3.
PMID 22137110

Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.

Akamizu T, Sakura N, Shigematsu Y, Tajima G, Ohtake A, Hosoda H, Iwakura H, Ariyasu H, Kangawa K.SourceT Akamizu, The First Department of Medicine, Wakayama Medical University, Wakayama, Japan.
European journal of endocrinology / European Federation of Endocrine Societies.Eur J Endocrinol.2011 Nov 2. [Epub ahead of print]
Objective: Ghrelin requires a fatty acid modification for binding to the growth hormone secretagogue receptor. Acylation of the Ser3 residue of ghrelin is essential for its biological activities. We hypothesized that acyl-CoA is the fatty acid substrate for ghrelin acylation. Because serum octanoyl-
PMID 22048973

Tandem mass spectrometry findings at autopsy for detection of metabolic disease in infant deaths: postmortem changes and confounding factors.

Pryce JW, Weber MA, Heales S, Malone M, Sebire NJ.SourceUCL Institute of Child Health, Great Ormond Street Hospital for Children, London, UK.
Journal of clinical pathology.J Clin Pathol.2011 Nov;64(11):1005-9. Epub 2011 Sep 6.
AIM: Tandem mass spectrometry (MS/MS) is a recommended investigation for sudden unexpected death in infancy (SUDI), but there are limited data regarding yield and potential influencing factors. This study investigates postmortem acylcarnitine profiles in a large cohort of infant deaths from a single
PMID 21896576

Japanese Journal

タンデムマスを用いる先天性代謝異常症の拡大スクリーニングの現状

久原とみ子
日本衛生学雑誌 69(1), 60-74, 2014
… Many European countries target only two diseases: medium-chain acyl-CoA dehydrogenase deficiency and phenylketonuria; …
NAID 130003394515

新生児タンデムマススクリーニングで発見された超低出生体重児の中鎖アシルCoA脱水素酵素(MCAD)欠損症

長尾雅悦,野町祥介,田中藤樹
日本マス・スクリーニング学会誌 = Journal of Japanese Society for Mass-screening 21(3), 247-252, 2011-12-01
NAID 10030204890

極長鎖アシルCoA脱水素酵素(VLCAD)欠損症の22歳女性例に対する食事療法の試み

春木明代,川井元晴,小笠原淳一 [他],古賀道明,根来清,神田隆
臨床神経学 50(3), 172-174, 2010-03-01
NAID 10026291634

「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。