disorders of amino acid metabolism

アミノ酸代謝異常症

WordNet

1. bring disorder to (同)disarray
2. a physical condition in which there is a disturbance of normal functioning; "the doctor prescribed some medicine for the disorder"; "everyone gets stomach upsets from time to time" (同)upset
3. a disturbance of the peace or of public order
4. street name for lysergic acid diethylamide (同)back breaker, battery-acid, dose, dot, Elvis, loony toons, Lucy in the sky with diamonds, pane, superman, window pane, Zen
5. any of various water-soluble compounds having a sour taste and capable of turning litmus red and reacting with a base to form a salt
6. having the characteristics of an acid; "an acid reaction"
7. pertaining to or containing any of a group of organic compounds of nitrogen derived from ammonia (同)aminic
8. the radical -NH2 (同)amino_group
9. the organic processes (in a cell or organism) that are necessary for life (同)metabolic_process

PrepTutorEJDIC

1. 〈U〉『無秩序』,混乱,乱雑(confusion) / 《しばしば複数形で》(社会的・政治的な)粉争,騒動 / 〈C〉(肉体的・精神的な)不調,異常,障害 / …‘の'秩序を乱す / 〈心身〉‘に'異常を起こさせる
2. 《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)
3. 酸性の / 酸味のある,すっぱい(sour) / (言葉・態度などが)厳しい,しんらつな / 酸 / すっぱいもの / 《俗》=LSD
4. 新陳代謝,物質交代

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. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
• 2. 先天性代謝異常：分類 inborn errors of metabolism classification
• 3. 先天性代謝異常：代謝性救急疾患 inborn errors of metabolism metabolic emergencies
• 4. 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
• 5. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies

English Journal

• Intermediaries of branched chain amino acid metabolism induce fetal hemoglobin, and repress SOX6 and BCL11A, in definitive erythroid cells.

• Karkashon S1, Raghupathy R1, Bhatia H1, Dutta A1, Hess S2, Higgs J3, Tifft CJ3, Little JA4.
• Blood cells, molecules & diseases.Blood Cells Mol Dis.2015 Aug;55(2):161-7. doi: 10.1016/j.bcmd.2015.05.006. Epub 2015 May 27.
• High levels of fetal hemoglobin (HbF) can ameliorate human β-globin gene disorders. The short chain fatty acid butyrate is the paradigmatic metabolic intermediary that induces HbF. Inherited disorders of branched-chain amino acid (BCAA) metabolism have been associated with supranormal HbF levels be
• PMID 26142333

• Folates and aging: Role in mild cognitive impairment, dementia and depression.

• Araújo JR1, Martel F2, Borges N3, Araújo JM4, Keating E5.
• Ageing research reviews.Ageing Res Rev.2015 Jul;22:9-19. doi: 10.1016/j.arr.2015.04.005. Epub 2015 May 2.
• In almost all tissues, including the brain, folates are required for one-carbon transfer reactions, which are essential for the synthesis of DNA and RNA nucleotides, the metabolism of amino acids and the occurrence of methylation reactions. The aim of this paper is to review the impact of folate sta
• PMID 25939915

• Syndromic parkinsonism and dementia associated with OPA1 missense mutations.

• Carelli V1,2, Musumeci O3, Caporali L1, Zanna C2, La Morgia C1,2, Del Dotto V4, Porcelli AM4, Rugolo M4, Valentino ML1,2, Iommarini L4, Maresca A1,2, Barboni P5, Carbonelli M5, Trombetta C6, Valente EM7, Patergnani S8, Giorgi C8, Pinton P8, Rizzo G1,2, Tonon C9, Lodi R9, Avoni P1,2, Liguori R1,2, Baruzzi A1,2, Toscano A3, Zeviani M10.
• Annals of neurology.Ann Neurol.2015 Jul;78(1):21-38. doi: 10.1002/ana.24410. Epub 2015 Jun 10.
• OBJECTIVE: Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on mitochondrial dynamics and quality control. Mitochondrial dynamics and mtDNA maintenance is another link recently emerged,
• PMID 25820230

Japanese Journal

• ビオプテリンの生理機能と病態代謝

• 一瀬 宏
• ビタミン 88(3), 131-138, 2014-03-25
• … Tetrahydrobiopterin (BH4) is a cofactor for aromatic amino acid mono-oxygenases and nitric oxide synthases. … Alteration in the content of tissue BH4 can affect a variety of physiological functions. … GTP cyclohydrolase I is an enzyme for BH4-biosynthesis and the genetic defect in an allele of GTP cyclohydrolase I gene can cause hereditary dystonia, termed as DYT5, due to partial BH4 deficiency. …
• NAID 110009807287

• Beneficial effect of branched-chain amino acid supplementation on glycemic control in chronic hepatitis C patients with insulin resistance: Implications for type 2 diabetes

• Takeshita Yumie,Takamura Toshinari,Kita Yuki,Ando Hitoshi,Ueda Teruyuki,Kato Kenichiro,Misu Hirofumi,Sunagozaka Hajime,Sakai Yoshio,Yamashita Tatsuya,Mizukoshi Eishiro,Honda Masao,Kaneko Shuichi
• Metabolism
• … Branched-chain amino acids (BCAAs) improve disorders of albumin metabolism, quality of life, subjective symptoms, and prognosis in patients with chronic hepatitis. … We examined the effects of BCAAs on glucose tolerance and insulin sensitivity in patients with chronic hepatitis C and insulin resistance. …
• NAID 120004997025

• Disorders of amino acid metabolism associated with epilepsy

• LEE Wang-Tso
• Brain & development 33(9), 745-752, 2011-10-01
• NAID 10031121987

Related Links

• Disorders of Amino Acid Metabolism: Hereditary Metabolic ...

Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing can result from defects either in the breakdown of amino acids or in the body's ability to get amino ...

• DISORDERS OF AMINO ACID METABOLISM - Neuropathology

DISORDERS OF AMINO ACID METABOLISM This is a group of inherited defects of the degradation of amino acids. They include the urea cycle disorders, in which the defect involves conversion of the amino group to urea, and ...

---

★リンクテーブル★

リンク元	「アミノ酸代謝異常症」
関連記事	「disorder」

「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

「disorder」

　　[★]

• 障害：個人的苦痛や機能の障害があるので「疾病」とは言えるものの、その背景にある臓器障害がもう一つはっきりしない場合に用いられる。(PSY.9)

• n.

• an untidy state; a lack of order or organization (⇔order)
• violent behaviour of large groups of people
• an illness that cause a part of the body to stop functioning correctly

• 注意

disease <> illness <> disorder

• vt.

• 乱す、乱雑にする。(人)の(心身の)調子を狂わせる。

• vi.