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

WordNet

1. write by means of a keyboard with types; "type the acceptance letter, please" (同)typewrite
2. a small metal block bearing a raised character on one end; produces a printed character when inked and pressed on paper; "he dropped a case of type, so they made him pick them up"
3. (biology) the taxonomic group whose characteristics are used to define the next higher taxon
4. a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"
5. all of the tokens of the same symbol; "the word `element contains five different types of character"
6. printed characters; "small type is hard to read"
7. identify as belonging to a certain type; "Such people can practically be typed" (同)typecast
8. an impairment of health or a condition of abnormal functioning
9. (computer science) the process of storing information in a computer memory or on a magnetic tape or disk
10. the act of storing something
11. the commercial enterprise of storing goods and materials
12. caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes" (同)morbid, pathologic, pathological
13. one form in which body fuel is stored; stored primarily in the liver and broken down into glucose when needed by the body (同)animal_starch

PrepTutorEJDIC

1. 〈C〉(…の)『型』,タイプ,類型,種類(kind)《+of+名》 / 〈C〉(その種類の特質を最もよく表している)『典型』,手本,模範《+of+名》 / 〈U〉《集合的に》活字;〈C〉(1個の)活字 / 〈U〉(印刷された)字体,活字 / 〈C〉(貨幣・メダルなどの)模様,図柄 / 〈C〉血液型(blood group) / …‘を'タイプに打つ / (…として)…‘を'分類する《+名+as+名(doing)》 / …‘の'型を決める / タイプライターを打つ
2. (体の)『病気』,疾患 / (精神・道徳などの)病気,病弊
3. 女性の話術芸人 =diseur
4. (倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料
5. 病気にかかった / 病的な,不健全な(morbid)
6. グリコーゲン,糖原

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/03/09 14:52:02」(JST)

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[Wiki en表示]

Phosphofructokinase deficiency
Classification and external resources
ICD-10	E74.0
ICD-9	271.0
OMIM	232800
DiseasesDB	5314
eMedicine	med/913
MeSH	D006014

Phosphofructokinase deficiency, also known as Glycogen storage disease type VII or Tarui's disease, is metabolic disorder with autosomal recessive inheritance.

It may affect humans as well as other mammals (especially dogs). In humans it is the least common type of glycogen storage disease. It was named after the Japanese Physician, Seiichiro Tarui (1927- ).

§Pathophysiology

In this condition, a deficiency of the M subunit (PFKM) of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes (skeletal muscle cells) to use carbohydrates (such as glucose) for energy.

The mutation impairs the ability of phosphofructokinase to phosphorylate fructose-6-phosphate prior to its cleavage into glyceraldehyde-3-phosphate which enters the energy generation phase of glycolysis, effectively limiting energy production.

Unlike most other glycogen storage diseases, it directly affects glycolysis.

§Presentation

The disease presents with exercise-induced muscle cramps and weakness (sometimes rhabdomyolysis), myoglobinuria, as well as with haemolytic anaemia causing dark urine a few hours later. Hyperuricemia is common. Phosphofructokinase deficiency also presents in a rare infantile form. The infantile form causes severe myopathy and leads to death in infancy or early childhood.

§Diagnosis

Other deficiency diseases with similar signs and symptoms include deficiencies of phosphoglycerate kinase, phosphoglycerate mutase, lactate dehydrogenase, beta-enolase and aldolase A.

A diagnosis can be made through a muscle biopsy that shows excess glycogen and then further tests that will show the levels of phosphofructokinase enzyme.

§References

§External links

• Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; Tarui disease at NIH's Office of Rare Diseases
• Asociación Española de Enfermos de Glucogenosis

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. 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. ケトン食 the ketogenic diet
• 4. 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
• 5. 小児における溶血性貧血の概要 overview of hemolytic anemias in children

English Journal

• 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

• 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 Jun 25. doi: 10.1111/ped.12616. [Epub ahead of print]
• 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

• 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

• Genetics of Glycogen-Storage Disease Type VII: Background ...

Frequency International Tarui disease is the least common glycogen-storage disease. Tarui disease is considered very rare, with approximately 100 reported cases; however, because symptoms may be quite mild, the ...

• Glycogen storage disease type VII - Genetics Home Reference

Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of ...

Related Pictures

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★リンクテーブル★

リンク元	「垂井病」「7型糖原貯蔵障害」「muscle phosphofructokinase deficiency」「type VII glycogen storage disease」
拡張検索	「glycogen storage disease type VIII」
関連記事	「disease」「type」「storage」「V」「typed」

「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

「7型糖原貯蔵障害」

　　[★]

英

glycogen storage disease type VII

関

垂井病、糖原病VII型、筋ホスホフルクトキナーゼ欠損症

「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

「type VII glycogen storage disease」

　　[★]

糖原病VII型、糖原病7型

関

glycogen storage disease type VII

「glycogen storage disease type VIII」

　　[★]

糖原病VIII型、8型糖原貯蔵障害

関

type VIII glycogen storage disease

「disease」

　　[★]

• n.

疾患：illnessより厳密な概念。「ある臓器に明確な障害が確認され、それによって症状が出ているとはっきり説明できる場合」 (PSY.9)

特定の原因、病態生理、症状、経過、予後、病理組織所見が全てそろった場合 (PSY.9)

• something that is very wrong with people's attitudes, way of life or with society.

関

ail、ailment、disease entity、disorder、ill、illness、malady、sick、sickness

• 注意

disease ≠ illness ≠ disorder

　 　 　

「type」

　　[★]

• n.

• 型、タイプ、(生物)タイプ標本

(windows)ファイル内容表示(linux -> cat])

ex. type report_20111118.jp.htm | php a.php > report_20111118.jp.jp.jp.html

関

form、mode、pattern、type specimen、typed

　 　 　 　 　 　 　 　

「storage」

　　[★]

• n.

• 貯蔵

関

pool、pooling、preservation、preserve、reserve、store

　 　 　 　

「V」

　　[★]

• バリン valine
• ビタミン vitamine
• ventilation

　 　

「typed」

　　[★]

• adj.

• 型の

関

form、mode、pattern、type