glycogen storage disease type V

出典: meddic


McArdle diseaseMcArdle's diseasemuscle phosphorylase deficiencytype V glycogen storage disease

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.


  • Clinical and Molecular Characterization of Mcardle's Disease in Brazilian Patients.
  • Gurgel-Giannetti J, Nogales-Gadea G, van der Linden H Jr, Bellard TM, Brasileiro Filho G, Giannetti AV, de Castro Concentino EL, Vainzof M.SourceDepartment of Pediatrics, Pediatric Neurology Service, Medical School, Universidade Federal de Minas Gerais, Rua Santa Catarina, 1042 apt: 201, Belo Horizonte, MG, Brazil,
  • Neuromolecular medicine.Neuromolecular Med.2013 Sep;15(3):470-5. doi: 10.1007/s12017-013-8233-2. Epub 2013 May 8.
  • McArdle's disease, a glycogen storage disease type V, is caused by a deficiency of the enzyme myophosphorylase, encoded by the PYGM gene. Worldwide distribution of mutations has revealed interesting data about the prevalence of mutations and population migrations. Currently, more than 100 mutations
  • PMID 23653251
  • McArdle's disease (glycogen storage disease type V) and anesthesia - a case report and review of the literature.
  • Bollig G.SourceDepartment of Anesthesiology and Intensive Care, Palliative Medicine and Pain Therapy, HELIOS Klinikum Schleswig, Schleswig, Germany; Department of Surgical Sciences, Haukeland University Hospital, University of Bergen, Bergen, Norway.
  • Paediatric anaesthesia.Paediatr Anaesth.2013 Sep;23(9):817-23. doi: 10.1111/pan.12164. Epub 2013 Apr 9.
  • McArdles disease (glycogen storage disease type v) is a rare condition in which energy-metabolism in the muscle is hampered. A case report is presented and the possible risk for perioperative complications including malignant hyperthermia is discussed. A checklist for the anesthesiological managemen
  • PMID 23565573
  • Monocarboxylate transporters and mitochondrial creatine kinase protein content in McArdle disease.
  • Kitaoka Y, Ogborn DI, Mocellin NJ, Schlattner U, Tarnopolsky MA.SourceDepartment of Pediatrics, McMaster University, 1200 Main Street West, Hamilton, Ontario, Canada L8N 3Z5.
  • Molecular genetics and metabolism.Mol Genet Metab.2013 Apr;108(4):259-62. doi: 10.1016/j.ymgme.2013.01.005. Epub 2013 Jan 19.
  • McArdle disease (MD) is a metabolic myopathy due to myophosphorylase deficiency. We examined monocarboxylate transporters (MCT) and creatine kinase (CK) protein content in skeletal muscle from MD patients and age-matched controls to evaluate potential cellular adaptations that compensate for the los
  • PMID 23434346


  • Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III : This article has been corrected since advance Online Publication, and a corrigendum is also printed in this issue
  • Mili Amira,Charfeddine Ilhem Ben,Mamai Ons [他],CHERIF Wafa,ADALA Labiba,AMARA Abdelbasset,PAGLIARANI Serena,LUCCHIARI Sabrina,AYADI Abdelkarim,TEBIB Neji,HARBI Abdelaziz,BOUGUILA Jihene,H'MIDA Dorra,SAAD Ali,LIMEM Khalifa,COMI GP,GRIBAA Moez
  • Journal of human genetics 57(3), 170-175, 2012-03-01
  • NAID 10030711965
  • 糖原病Ib型患児に対する口蓋形成術の全身麻酔経験
  • 小島 好博,小林 義和,大上 沙央理,山田 守正,水谷 英樹,竹田 清
  • 日本歯科麻酔学会雑誌 40(1), 50-51, 2012-01-15
  • NAID 10030283368
  • Discussion Regarding the Method of Screening for Hepatocellular Carcinoma in Glycogen Storage Disease Type 1a
  • Ochi Hironori,Hiraoka Atsushi,Michitaka Kojiro
  • Internal Medicine 51(13), 1813-1813, 2012
  • NAID 130002062211


Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown ...
Glycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms usually are ...



先読みMcArdle's disease」「muscle phosphorylase deficiency
リンク元マッカードル病」「5型糖原貯蔵障害」「type V glycogen storage disease
拡張検索glycogen storage disease type VII」「glycogen storage disease type VI」「glycogen storage disease type VIII

McArdle's disease」

  [★] マッカードル病

myophosphorylase deficiency

muscle phosphorylase deficiency」

  [★] 筋ホスホリラーゼ欠損症



McArdle disease
V型糖原病 type V glycogen storage disease, 糖原病V型 glycogen storage disease type V, glycogenosis type V
McArdle病筋ホスホリラーゼ欠損症 muscle phosphorylase deficiency MPD
  • first aid step1 2006 p.98


  • 筋型の糖原病に分類される
  • 筋肉における先天的なグリコーゲンホスホリラーゼ欠損により、 グリコーゲン分解が困難となる。運動時の疫撃、運動障害。






  • 激しい運動後が引き金となり疼痛、ミオグロビン尿を呈する。







  • Q book p.139 33



glycogen storage disease type V

type V glycogen storage disease」



glycogen storage disease type V

glycogen storage disease type VII」



muscle phosphofructokinase deficiencyTarui diseasetype VII glycogen storage disease

glycogen storage disease type VI」



Hers diseaseHers' diseasetype VI glycogen storage disease

glycogen storage disease type VIII」



type VIII glycogen storage disease



  • n.
(windows)ファイル内容表示(linux -> cat])
ex. type | php a.php >
formmodepatterntype specimentyped

WordNet   license wordnet

「write by means of a keyboard with types; "type the acceptance letter, please"」

WordNet   license wordnet

「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"」

WordNet   license wordnet

「(biology) the taxonomic group whose characteristics are used to define the next higher taxon」

WordNet   license wordnet

「a subdivision of a particular kind of thing; "what type of sculpture do you prefer?"」

WordNet   license wordnet

「all of the tokens of the same symbol; "the word `element'' contains five different types of character"」

WordNet   license wordnet

「printed characters; "small type is hard to read"」

WordNet   license wordnet

「identify as belonging to a certain type; "Such people can practically be typed"」

PrepTutorEJDIC   license prepejdic

「〈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」



  • 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.
ailailmentdisease entitydisorderillillnessmaladysicksickness
  • 注意

WordNet   license wordnet

「an impairment of health or a condition of abnormal functioning」

PrepTutorEJDIC   license prepejdic

「(体の)『病気』,疾患 / (精神・道徳などの)病気,病弊」

PrepTutorEJDIC   license prepejdic

「女性の話術芸人 =diseur」



  • n.

WordNet   license wordnet

「(computer science) the process of storing information in a computer memory or on a magnetic tape or disk」

WordNet   license wordnet

「the act of storing something」

WordNet   license wordnet

「the commercial enterprise of storing goods and materials」

PrepTutorEJDIC   license prepejdic

「(倉庫などに)貯蔵すること,保管 / 貯蔵所,倉庫 / 保管料」



WordNet   license wordnet

「caused by or altered by or manifesting disease or pathology; "diseased tonsils"; "a morbid growth"; "pathologic tissue"; "pathological bodily processes"」
morbid, pathologic, pathological

PrepTutorEJDIC   license prepejdic

「病気にかかった / 病的な,不健全な(morbid)」


  [★] グリコーゲン

WordNet   license wordnet

「one form in which body fuel is stored; stored primarily in the liver and broken down into glucose when needed by the body」
animal starch

PrepTutorEJDIC   license prepejdic