multiple acyl-coenzyme A dehydrogenase deficiency

多種アシルCoA脱水素酵素欠損症

WordNet

1. having or involving or consisting of more than one part or entity or individual; "multiple birth"; "multiple ownership"; "made multiple copies of the speech"; "his multiple achievements in public life"; "her multiple personalities"; "a pineapple is a multiple fruit"
2. the product of a quantity by an integer; "36 is a multiple of 9"
3. the 1st letter of the Roman alphabet (同)a
4. the blood group whose red cells carry the A antigen (同)type_A, group A
5. any group or radical of the form RCO- where R is an organic group; "an example of the acyl group is the acetyl group" (同)acyl_group
6. a small molecule (not a protein but sometimes a vitamin) essential for the activity of some enzymes

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. 多数の部分(要素)から成る,複合の,複式の / 倍数
3. answer / ampere

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. 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
• 2. グルコース-6-リン酸脱水素酵素欠損症の診断および治療 diagnosis and treatment of glucose 6 phosphate dehydrogenase deficiency
• 3. ヘキソースリン酸側路およびグルタチオン代謝疾患（グルコース-6-リン酸脱水素酵素欠損症を除く） disorders of the hexose monophosphate shunt and glutathione metabolism other than glucose 6 phosphate dehydrogenase deficiency
• 4. 水溶性ビタミンの概要 overview of water soluble vitamins
• 5. 乳酸脱水素酵素欠損症 lactate dehydrogenase deficiency

English Journal

• Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.

• Whitaker CH1, Felice KJ1, Silvers D2, Wu Q3.
• Muscle & nerve.Muscle Nerve.2015 Aug;52(2):289-93. doi: 10.1002/mus.24552. Epub 2015 Feb 11.
• INTRODUCTION: The lipid storage myopathies, primary carnitine deficiency, neutral lipid storage disease, and multiple acyl coenzyme A dehydrogenase deficiency (MADD), are progressive disorders that cause permanent weakness. These disorders of fatty acid metabolism and intracellular triglyceride degr
• PMID 25556768

• Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry.

• Han L1, Han F, Ye J, Qiu W, Zhang H, Gao X, Wang Y, Ji W, Gu X.
• Journal of clinical laboratory analysis.J Clin Lab Anal.2015 Mar;29(2):162-8. doi: 10.1002/jcla.21745. Epub 2014 May 5.
• BACKGROUND: Information concerning inherited metabolic diseases in China is scarce. We investigated the prevalence and age distributions of amino acid, organic acid, and fatty acid oxidation disorders in Chinese patients.METHODS: Blood levels of amino acids and acylcarnitines (tandem mass spectromet
• PMID 24797655

• Glutaric aciduria type II presenting as myopathy and rhabdomyolysis in a teenager.

• Prasad M1, Hussain S2.
• Journal of child neurology.J Child Neurol.2015 Jan;30(1):96-9. doi: 10.1177/0883073813516676. Epub 2014 Jan 21.
• Late-onset glutaric aciduria type II has been described recently as a rare but treatable cause of proximal myopathy in teenagers and adults. It is an autosomal recessive disease affecting fatty acid, amino acid, and choline metabolism. This is usually a result of 2 defective flavoproteins: either el
• PMID 24453145

Japanese Journal

• Symmetric hypoplasia of the temporal cerebral lobes in an infant with glutaric aciduria type II (multiple acyl-coenzyme A dehydrogenase deficiency)

• STOCKLER S
• J Pediatr 124, 601-604, 1994
• NAID 30017462440

Related Links

• Multiple acyl coenzyme a dehydrogenase deficiency

Multiple acyl coenzyme a dehydrogenase deficiency. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a full patient history. A similarity measure between symptoms and ...

• Multiple Acyl Coenzyme A Dehydrogenase Deficiency ...

"Multiple Acyl Coenzyme A Dehydrogenase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical ... An autosomal recessive disorder of fatty acid oxidation, and branched ...

---

★リンクテーブル★

リンク元	「アミノ酸代謝異常症」「マルチプルアシルCoA脱水素酵素欠損症」「多種アシルCoA脱水素酵素欠損症」
関連記事	「deficiency」「A」「multiple」「Ad」「dehydrogenase」

「アミノ酸代謝異常症」

　　[★]

英

aminoacidopathy, disorder of aminoacid metabolism disorders of amino acid metabolism

同

アミノ酸代謝異常、先天性アミノ酸代謝異常症 先天性アミノ酸代謝異常 inborn error of amino acid metabolism

[show details]

アミノ酸代謝異常 : 約 16,700 件
アミノ酸代謝異常症 : 約 76,400 件

アミノ酸代謝異常症

国試で出たことが有るレベル

• フェニルケトン尿症
• ホモシスチン尿症
• メープルシロップ尿症
• ヒスチジン血症
• チロシン血症
• アルカプトン尿症
• シスチン尿症

• 白化 albinism
• アルカプトン尿症 alkaptonuria
• 非ケトーシス型高グリシン血症 nonketotic hyperglycinemia
• 高ホモシステイン血症 hyperhomocysteinemia
• 高リジン血症 hyperlysinemia
• メープルシロップ尿症 maple syrup urine disease
• 多種アシルCoA脱水素酵素欠損症 multiple acyl-coenzyme A dehydrogenase deficiency
• マルチプルカルボキシラーゼ欠損症 multiple carboxylase deficiency
• フェニルケトン尿症 phenylketonuria
• プロピオン酸血症 propionic acidemia
• チロシン血症 tyrosinemia
• 先天性尿素回路代謝異常 inborn urea cycle disorder

アミノ酸代謝異常で痙攣を呈さないもの

• チロシン血症、アルカプトン尿症、ヒスチジン血症

「マルチプルアシルCoA脱水素酵素欠損症」

　　[★]

英

multiple acyl-coenzyme A dehydrogenase deficiency

同

多種アシルCoA脱水素酵素欠損症

関

アミノ酸代謝異常症

[show details]

多種アシルCoA脱水素酵素欠損症 : 11 件
マルチプルアシルCoA脱水素酵素欠損症 : 12 件

「多種アシルCoA脱水素酵素欠損症」

　　[★]

英

multiple acyl-coenzyme A dehydrogenase deficiency

「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

　

「A」

　　[★]

• アデニン adenine
• アデノシン adenosine
• アラニン alanine

　 　 　

「multiple」

　　[★]

• n.

• 倍数

• adj.

関

multifocality、multiplex、plural

　 　 　

「Ad」

　　[★]

• アデノウイルス

関

adenoviral、adenovirus

「dehydrogenase」

　　[★] 脱水素酵素 デヒドロゲナーゼ