long-chain acyl-CoA dehydrogenase deficiency

長鎖アシルCoA脱水素酵素欠損症

WordNet

1. primarily temporal sense; being or indicating a relatively great or greater than average duration or passage of time or a duration as specified; "a long life"; "a long boring speech"; "a long time"; "a long friendship"; "a long game"; "long ago"; "an hour long"
2. (of speech sounds or syllables) of relatively long duration; "the English vowel sounds in `bate, `beat, `bite, `boat, `boot are long"
3. for an extended distance
4. for an extended time or at a distant time; "a promotion long overdue"; "something long hoped for"; "his name has long been forgotten"; "talked all night long"; "how long will you be gone?"; "arrived long before he was expected"; "it is long after your bedtime"
5. having or being more than normal or necessary:"long on brains"; "in long supply"
6. holding securities or commodities in expectation of a rise in prices; "is long on coffee"; "a long position in gold"
7. involving substantial risk; "long odds"
8. of relatively great height; "a race of long gaunt men"- Sherwood Anderson; "looked out the long French windows"
9. primarily spatial sense; of relatively great or greater than average spatial extension or extension as specified; "a long road"; "a long distance"; "contained many long words"; "ten miles long"
10. fasten or secure with chains; "Chain the chairs together"
11. a unit of length
12. a necklace made by a stringing objects together; "a string of beads"; "a strand of pearls"; (同)string, strand
13. a linked or connected series of objects; "a chain of daisies"
14. a series of (usually metal) rings or links fitted into one another to make a flexible ligament
15. anything that acts as a restraint
16. (chemistry) a series of linked atoms (generally in an organic molecule) (同)chemical chain
17. a series of things depending on each other as if linked together; "the chain of command"; "a complicated concatenation of circumstances" (同)concatenation
18. (business) a number of similar establishments (stores or restaurants or banks or hotels or theaters) under one ownership
19. connect or arrange into a chain by linking
20. the 3rd letter of the Roman alphabet (同)c
21. (music) the keynote of the scale of C major
22. a general-purpose programing language closely associated with the UNIX operating system
23. prolonged unfulfilled desire or need (同)yearning, hungriness

PrepTutorEJDIC

1. (距離・物の長さが)『長い』 / (時間が)『長い』,長く続く / 《時間・距離などを表離などを表す語を伴って》長さが…の / 『長々しい』,あきあきする / (数量が標準よりも)『多い』,長い / (人が)やせてひょろ長い / 長く,長い間,久しく / …じゅう / ずっと(前に,後に) / 長い間
2. 『熱望する』
3. 『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』)》
4. 〈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
5. carbonの化学記号
6. 『あこがれ』,熱望 / (目の表情などが)あこがれの,熱望している

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/06/08 13:07:58」(JST)

wiki en

[Wiki en表示]

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Classification and external resources
ICD-9	277.85
OMIM	600890
eMedicine	ped/1284

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, often shortened to LCHAD deficiency, is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting certain fats into energy. This can become life-threatening, particularly during periods of fasting.

Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of LCHAD deficiency

Genetics

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance.

Mutations in the HADHA gene lead to inadequate levels of an enzyme called long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase, which is part of a protein complex known as mitochondrial trifunctional protein. Long-chain fatty acids from food and body fat cannot be metabolized and processed without sufficient levels of this enzyme. As a result, these fatty acids are not converted to energy, which can lead to characteristic features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may build up in tissues and damage the liver, heart, retina, and muscles, causing more serious complications.

Symptoms

Typically, initial signs and symptoms of this disorder occur during infancy or early childhood and can include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver problems, and abnormalities in the retina. Muscle pain, a breakdown of muscle tissue, and abnormalities in the nervous system that affect arms and legs (peripheral neuropathy) may occur later in childhood. There is also a risk for complications such as life-threatening heart and breathing problems, coma, and sudden unexpected death. Episodes of LCHAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections.

See also

• Medium chain acyl dehydrogenase deficiency

External links

• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency at NLM Genetics Home Reference
• Newbornscreening.info

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.

• 1. 特定の脂肪酸酸化障害 specific fatty acid oxidation disorders
• 2. 脂肪酸酸化障害の概要 overview of fatty acid oxidation disorders
• 3. 新生児低血糖の病因、スクリーニング、および診断 pathogenesis screening and diagnosis of neonatal hypoglycemia
• 4. 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
• 5. リソソーム酸α-グルコシダーゼ欠損症（ポンペ病、糖原病II型、酸マルターゼ欠損症） lysosomal acid alpha glucosidase deficiency pompe disease glycogen storage disease ii acid maltase deficiency

English Journal

• Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.

• Tenopoulou M1, Chen J2, Bastin J3, Bennett MJ2, Ischiropoulos H4, Doulias PT5.
• The Journal of biological chemistry.J Biol Chem.2015 Apr 17;290(16):10486-94. doi: 10.1074/jbc.M114.635102. Epub 2015 Mar 3.
• Very long acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic pediatric disorder presenting with a spectrum of phenotypes that remains for the most part untreatable. Here, we present a novel strategy for the correction of VLCAD deficiency by increasing mutant VLCAD enzymatic activity. Treatment o
• PMID 25737446

• Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.

• Jiang M, Liu L, Mei H, Li X, Cheng J, Cai Y.
• Journal of pediatric endocrinology & metabolism : JPEM.J Pediatr Endocrinol Metab.2015 Mar;28(3-4):375-80. doi: 10.1515/jpem-2014-0164.
• BACKGROUND: Inborn errors of metabolism (IEM) have been detected worldwide using gas chromatography mass spectrometry (GC-MS) since the 1980s, but few related reports exist on the incidence, spectrum, and clinical presentation features of IEM in southern China.METHOD: From January 2009 to March 2012
• PMID 25781538

• Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.

• Scalais E1, Bottu J, Wanders RJ, Ferdinandusse S, Waterham HR, De Meirleir L.
• American journal of medical genetics. Part A.Am J Med Genet A.2015 Jan;167A(1):211-4. doi: 10.1002/ajmg.a.36803. Epub 2014 Oct 22.
• In neonates, very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is often characterized by cardiomyopathy, hepatic encephalopathy, or severe hypoketotic hypoglycemia, or a combination thereof. The purpose of this study was to further elucidate a familial VLCAD deficiency in three patients, two
• PMID 25338548

Japanese Journal

• 臨床研究・症例報告 反復する横紋筋融解症を契機に診断に至った極長鎖アシルCoA脱水素酵素欠損症の1例

• 玉置 祥子,木下 大介,馬殿 洋樹 [他]
• 小児科臨床 64(8), 1865-1869, 2011-08
• NAID 40018896102

• 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

• 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,古賀 道明,根来 清,神田 隆
• 臨床神経学 50(3), 172-174, 2010
• … 15歳時から横紋筋融解症をくりかえした極長鎖アシルCoA脱水素酵素欠損症の22歳女性に対し，再発予防目的で炭水化物の頻回摂取，および中鎖・短鎖脂肪酸を主体とした脂質摂取による食事療法を開始した．約3年が経過し，再発は消失した．本症の脂肪酸代謝障害に対する根本的治療はないが，飢餓状態，疲労などの誘発因子の除去に関する生活指導とともに，食事療法が再発予防に対し重要と思われた． …
• NAID 130004504752

Related Links

• Very long-chain acyl-CoA dehydrogenase deficiency

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD ...

• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of ...

Related Pictures

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★リンクテーブル★

リンク元	「長鎖アシルCoA脱水素酵素欠損症」
拡張検索	「very-long-chain acyl-CoA dehydrogenase deficiency」
関連記事	「deficiency」「C」「chain」「long」「CoA」

「長鎖アシルCoA脱水素酵素欠損症」

　　[★]

英

long-chain acyl-CoA dehydrogenase deficiency

同

LCAD欠損症

「very-long-chain acyl-CoA dehydrogenase deficiency」

　　[★] 極長鎖アシルCoA脱水素酵素欠損症

「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

　 　 　 　

「chain」

　　[★]

• n.

• 鎖、チェーン

• adj.

• 鎖状の、鎖式の

関

open-chain、strand

　 　 　 　 　 　 　 　 　 　 　

「long」

　　[★]

長い、望む

関

desire、hope、lengthy、wish

　 　 　 　 　 　 　 　 　 　 　

「CoA」

　　[★]

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