muscle phosphofructokinase deficiency

筋ホスホフルクトキナーゼ欠損症

関

glycogen storage disease type VII、Tarui disease

WordNet

1. make ones way by force; "He muscled his way into the office"
2. animal tissue consisting predominantly of contractile cells (同)muscular_tissue
3. one of the contractile organs of the body (同)musculus
4. authority or power or force (especially when used in a coercive way); "the senators used their muscle to get the party leader to resign"

PrepTutorEJDIC

1. 〈U〉(動物体の組織としての)『筋肉』,筋(きん);〈C〉(体の各部を動かす)筋肉 / 〈U〉力,(特に)筋力,腕力 / 《俗に》(…に)強引に割り込む《+『in on』(『into, through』)+『名』》
2. 〈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
3. 筋肉の,筋力のある / 力ずくの

UpToDate Contents

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• 1. ホスホフルクトキナーゼ欠損症（糖原病VII型、垂井病） phosphofructokinase deficiency glycogen storage disease vii tarui disease
• 2. グルコースおよびグリコーゲン代謝の遺伝性疾患の概要 overview of inherited disorders of glucose and glycogen metabolism
• 3. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
• 4. ケトン食 the ketogenic diet
• 5. 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

English Journal

• 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

• New insights in the field of muscle glycogenoses.

• Oldfors A1, DiMauro S.
• Current opinion in neurology.Curr Opin Neurol.2013 Oct;26(5):544-53. doi: 10.1097/WCO.0b013e328364dbdc.
• PURPOSE OF REVIEW: This review highlights recent contributions regarding clinical heterogeneity, pathogenic mechanisms, therapeutic trials, and animal models of the muscle glycogenoses.RECENT FINDINGS: Most recent publications have dealt with the clinical effects of enzyme replacement therapy (ERT)
• PMID 23995275

• Structure and allosteric regulation of eukaryotic 6-phosphofructokinases.

• Schöneberg T1, Kloos M, Brüser A, Kirchberger J, Sträter N.
• Biological chemistry.Biol Chem.2013 Aug;394(8):977-93. doi: 10.1515/hsz-2013-0130.
• Although the crystal structures of prokaryotic 6-phosphofructokinase, a key enzyme of glycolysis, have been available for almost 25 years now, structural information about the more complex and highly regulated eukaryotic enzymes is still lacking until now. This review provides an overview of the cur
• PMID 23729568

Japanese Journal

• Improvement of Hemolysis in Muscle Phosphofructokinase Deficiency by Restriction of Exercise

• TOYODA Hideki,NAKASE Tsutomu,TOMEOKU Makoto,MORITA Koichi,KATO Masami,MURATA Tetsuya,ONO Akira,KUWAJIMA Masamichi,KONO Norio
• Internal medicine 35(3), 222-226, 1996-03-00
• … A 29-year-old woman with muscle phosphofructokinase (PFK) deficiency had exercise intolerance, painful cramps, elevation of muscle enzyme levels in the serum and compensated hemolysis. …
• NAID 10006593950

• Muscle phosphofructokinase deficiency in two generations

• VORGERD M.
• J Neurol Sci 15, 95-99, 1996
• NAID 30005095230

• A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal RNA splicing.

• HAMAGUCHI T.
• Biochem Biophys Res Commun 202, 444, 1994
• NAID 30017786898

Related Links

• Muscle phosphofructokinase deficiency - RightDiagnosis.com

Muscle phosphofructokinase deficiency symptoms, causes, diagnosis, and treatment information for Muscle phosphofructokinase deficiency (Glycogen storage disease type 7) with alternative diagnoses, full-text book chapters ...

• Muscle phosphofructokinase deficiency. Biochemical and ...

Abstract Muscle cultures from three unrelated patients with muscle phosphofructokinase (PFK; EC 2.7.1.11) deficiency (Glycogenosis type VII; Tarui disease) had normal PFK activity and normal morphology. Chromatographic and ...

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★リンクテーブル★

リンク元	「垂井病」「glycogen storage disease type VII」「筋型ホスホフルクトキナーゼ欠損症」
関連記事	「deficiency」「phosphofructokinase」「muscle」

「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

「glycogen storage disease type VII」

　　[★]

糖原病VII型、7型糖原貯蔵障害

関

muscle phosphofructokinase deficiency、Tarui disease、type VII glycogen storage disease

「筋型ホスホフルクトキナーゼ欠損症」

　　[★]

英

muscle phosphofructokinase 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

　

「phosphofructokinase」

　　[★] ホスホフルクトキナーゼ

「muscle」

　　[★]

• n.

• 筋肉