AMP deaminase deficiency

アデニル酸デアミナーゼ欠損症

WordNet

1. the 1st letter of the Roman alphabet (同)a
2. the blood group whose red cells carry the A antigen (同)type_A, group A

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. answer / ampere

UpToDate Contents

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• 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. アデノシンデアミナーゼ欠損症：病因、臨床症状、および診断 adenosine deaminase deficiency pathogenesis clinical manifestations and diagnosis
• 3. アデノシンデアミナーゼ欠損症：治療 adenosine deaminase deficiency treatment
• 4. Uncommon congenital adrenal hyperplasias
• 5. 筋ホスホリラーゼ欠損症（糖原病V型、マッカードル病） myophosphorylase deficiency glycogen storage disease v mcardle disease

English Journal

• A diagnostic approach to recurrent myalgia and rhabdomyolysis in children.

• Chan EK1, Kornberg AJ2, Ryan MM3.
• Archives of disease in childhood.Arch Dis Child.2015 Aug;100(8):793-7. doi: 10.1136/archdischild-2014-307663. Epub 2015 Jan 29.
• Episodic myalgia is a common complaint in children and young adults. While many cases remain idiopathic even after extensive investigation, myalgia can be the first symptom of an underlying serious neuromuscular condition, and can be associated with an increased risk of such serious complications as
• PMID 25633066

• AMPD1 regulates mTORC1-p70 S6 kinase axis in the control of insulin sensitivity in skeletal muscle.

• Tandelilin AA1,2, Hirase T3, Hudoyo AW4,5, Cheng J6,7, Toyama K8,9, Morisaki H10,11, Morisaki T12,13.
• BMC endocrine disorders.BMC Endocr Disord.2015 Mar 27;15:11. doi: 10.1186/s12902-015-0010-9.
• BACKGROUND: Insulin resistance triggered by excess fat is a key pathogenic factor that promotes type 2 diabetes. Understanding molecular mechanisms of insulin resistance may lead to the identification of a novel therapeutic target for type 2 diabetes. AMPD1, an isoform of AMP deaminase (AMPD), is su
• PMID 25887856

• Elevated adenosine signaling via adenosine A2B receptor induces normal and sickle erythrocyte sphingosine kinase 1 activity.

• Sun K1, Zhang Y2, Bogdanov MV2, Wu H2, Song A2, Li J2, Dowhan W2, Idowu M3, Juneja HS3, Molina JG2, Blackburn MR1, Kellems RE1, Xia Y1.
• Blood.Blood.2015 Mar 5;125(10):1643-52. doi: 10.1182/blood-2014-08-595751. Epub 2015 Jan 13.
• Erythrocyte possesses high sphingosine kinase 1 (SphK1) activity and is the major cell type supplying plasma sphingosine-1-phosphate, a signaling lipid regulating multiple physiological and pathological functions. Recent studies revealed that erythrocyte SphK1 activity is upregulated in sickle cell
• PMID 25587035

Japanese Journal

• 発達障害の遺伝子研究

• 小笠原 信明
• 聴能言語学研究 18(3), 175-181, 2001-12-25
• … すHPRT遺伝子の変異は,遺伝子のどの位置でもおこりうること,また極めてまれな愛知県コロニーで発見された世界最初の女児例について,これまでの遺伝子解析を紹介した.(2)我々が世界で最初に発見した赤血球型AMPデアミナーゼという酵素の欠損について遺伝子解析を行ったところ,75%が同じ変異をもち,残りの25%は種々の異なった変異をもっていた.(3)軟骨無形成症では,線維芽細胞増殖因子受容体3(FGFR3)の変異で発症し,変異 …
• NAID 10009354664

• Molecular basis for human erythrocyte AMP deaminase deficiency : Screening for the major point mutation and identification of other mutation

• YAMADA Y
• Hum Mol Genet 3, 2243-2245, 1994
• NAID 30024453227

Related Links

• Adenosine Monophosphate Deaminase Deficiency type 1 - Wikipedia

This failure to deaminate the AMP molecules has three major effects. First, significant amounts of AMP are lost from the cell and the body. Second, ammonia is not freed when the ...

• AMP deaminase - Wikipedia, the free encyclopedia

Adenosine monophosphate deaminase is an enzyme that converts adenosine monophosphate (AMP) to inosine monophosphate (IMP), freeing an ammonia molecule in the ... "Molecular basis of AMP deaminase deficiency in skeletal muscle.

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★リンクテーブル★

リンク元	「アデニル酸デアミナーゼ欠損症」
関連記事	「deficiency」「AMP deaminase」「A」「AM」「AMP」

「アデニル酸デアミナーゼ欠損症」

　　[★]

英

adenylate deaminase deficiency

同

AMPデアミナーゼ欠損症 AMP deaminase deficiency

関

AMP、IMP

「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

　

「AMP deaminase」

　　[★]

アデノシン一リン酸デアミナーゼ、アデニル酸デアミナーゼ、アデニル酸脱アミノ酵素、AMPデアミナーゼ

「A」

　　[★]

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

　 　 　

「AM」

　　[★]

• 非定型抗酸菌症 atypical mycobacteriosis
• 鋭角枝 acute marginal branch

「AMP」

　　[★] アデノシン一リン酸 adenosine monophosphate adenosine 5'-monophosphate