PFKM deficiency

PFKM欠損症

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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

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• 1. IgG サブクラス欠乏症 igg subclass deficiency
• 2. ホスホグリセリン酸キナーゼ欠損症およびホスホグリセリン酸ムターゼ欠損症 phosphoglycerate kinase deficiency and phosphoglycerate mutase deficiency
• 3. アデノシンデアミナーゼ欠損症：治療 adenosine deaminase deficiency treatment
• 4. 免疫不全症を引き起こすミエロペルオキシダーゼ欠損症および酵素白血球欠損症 myeloperoxidase deficiency and other enzymatic wbc defects causing immunodeficiency
• 5. 補体系の遺伝性疾患 inherited disorders of the complement system

English Journal

• Infantile form of muscle phosphofructokinase deficiency in a premature neonate.

• Wu PL1, Yang YN1, Tey SL1, Yang CH1, Yang SN1, Lin CS2.
• Pediatrics international : official journal of the Japan Pediatric Society.Pediatr Int.2015 Aug;57(4):746-9. doi: 10.1111/ped.12616. Epub 2015 Jun 25.
• Muscle phosphofructokinase (PFK) deficiency is a rare autosomal recessive disease. We report the case of a preterm female infant who was diagnosed with the infantile form of phosphofructokinase deficiency due to a lack of PFK activity in her muscles, manifesting at a corrected age of 1 month as flop
• PMID 26108272

• Structures of human phosphofructokinase-1 and atomic basis of cancer-associated mutations.

• Webb BA1, Forouhar F2, Szu FE2, Seetharaman J2, Tong L2, Barber DL1.
• Nature.Nature.2015 Jul 2;523(7558):111-4. doi: 10.1038/nature14405. Epub 2015 May 18.
• Phosphofructokinase-1 (PFK1), the 'gatekeeper' of glycolysis, catalyses the committed step of the glycolytic pathway by converting fructose-6-phosphate to fructose-1,6-bisphosphate. Allosteric activation and inhibition of PFK1 by over ten metabolites and in response to hormonal signalling fine-tune
• PMID 25985179

• Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

• Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR.
• The British journal of radiology.Br J Radiol.2014 Jan;87(1033):20130467. doi: 10.1259/bjr.20130467. Epub 2013 Nov 14.
• Lysosomal storage diseases (LSDs) are a large group of genetic metabolic disorders that result in the accumulation of abnormal material, such as mucopolysaccharides, glycoproteins, amino acids and lipids, within cells. Since many LSDs manifest during infancy or early childhood, with potentially deva
• PMID 24234586

Related Links

• OMIM Entry - # 232800 - GLYCOGEN STORAGE DISEASE ...

Clinical Synopsis TEXT A number sign (#) is used with this entry because glycogen storage disease VII (GSD7) is caused by homozygous or compound heterozygous mutation in the PFKM gene (610681), which encodes muscle ...

• PFKM - Phosphofructokinase Deficiency - Abbreviations and ...

What does PFKM stand for? PFKM stands for Phosphofructokinase Deficiency. This definition appears very rarely The World's most comprehensive professionally edited abbreviations and acronyms database ... The World's most ...

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★リンクテーブル★

リンク元	「垂井病」「PFKM欠損症」
関連記事	「deficiency」「PFK」「PF」

「垂井病」

　　[★]

英

Tarui disease

同

VII型糖原病, 糖原病VII型, 糖原病7型, 7型糖原貯蔵障害, type VII glycogen storage disease, glycogen storage disease type VII, glycogenosis type VII

筋型ホスホフルクトキナーゼ欠損症 muscle phosphofructokinase deficiency、PFKM欠損症 PFKM deficiency phosphofructokinase, muscle type deficiency

関

糖原病

「PFKM欠損症」

　　[★]

英

PFKM deficiency

関

糖原病VII型

「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

　

「PFK」

　　[★] ホスホフルクトキナーゼ, phosphofructokinase, 6-phosphofructo-1-kinase

「PF」

　　[★] 平行線維 parallel fiber parallel fibre