Muscle Phosphorylase Deficiency
Authors: G. MILTON SHY
Journal: Annals of Internal Medicine (1965)

Editorials1 February 1965Muscle Phosphorylase DeficiencyG. MILTON SHY, M.D.G. MILTON SHY, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-62-2-409 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptStriated muscle of the human has not been exempted from the intense effort of modern day medicine to localize metabolic and molecular disorders at cellular and subcellular levels. Of the many new such disorders affecting striated muscle, perhaps the most classical is that of phosphorylase deficiency. In 1951 McArdle (1) first described a disorder in a young man who, after exercise, suffered from severe cramps and periodic myoglobinuria. Noting that after ischemic exercise the blood lactate and pyruvate levels did not rise in this young man, McArdle postulated an abnormality in the breakdown of glycogen in the Embden-Meyerhof cycle. He...References1. MCARDLE B: Myopathy due to a defect in muscle glycogen breakdown. Clin. Sci. 10: 13, 1951. MedlineGoogle Scholar2. SHY GM: Some metabolic and endocrinological aspects of disorders of striated muscle, in Neuromuscular Disorders, 1958. Res. Publ. Ass. Res. Nerv. Ment Dis. Vol. 38, Williams & Wilkins Co., Baltimore, 1960. Google Scholar3. SCHMIDROBBINSTRAUT RPWRP: Glycogen synthesis in muscle lacking phosphorylase. Proc. Nat. Acad. Sci. USA 45: 1236, 1959. CrossrefMedlineGoogle Scholar4. SCHMIDMAHLER RR: Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in muscle. J. Clin. Invest. 38: 2044, 1959. CrossrefMedlineGoogle Scholar5. MOMMAERTSILLINGWORTHPEARSONGUILLORYSERAYDARIAN WFBCMRJK: Functional disorder of muscle associated with the absence of phosphorylase. Proc. Nat. Acad. Sci. USA 45: 791, 1959. CrossrefMedlineGoogle Scholar6. PEARSONRIMERMOMMAERTS CMDWF: A metabolic myopathy due to absence of muscle phosphorylase. Amer. J. Med. 30: 502, 1961. CrossrefMedlineGoogle Scholar7. ROWLANDFAHNSCHOTLAND LPSDL: McArdle's disease: hereditary myopathy due to absence of muscle phosphorylase. Arch. Neurol. (Chicago) 9: 325, 1963. CrossrefMedlineGoogle Scholar8. ENGELEYERMANWILLIAMS WKELHE: Late-onset type of skeletal muscle phosphorylase deficiency: a new familial variety with completely and partially affected subjects. New Eng. J. Med. 268: 135, 1963. CrossrefGoogle Scholar9. SCHMIDHAMMAKER RL: Hereditary absence of muscle phosphorylase (McArdle's syndrome). New Eng. J. Med. 264: 223, 1961. CrossrefMedlineGoogle Scholar10. GREENCORI AAGT: Crystalline muscle phosphorylase: preparation, properties and molecular weight. J. Biol. Chem. 151: 21, 1943. CrossrefGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: University of Pennsylvania School of Medicine Philadelphia, Pa. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByFrom Glarus to Gallenfarbstoffen: the scientific contributions of Rudi SchmidRhabdomyolysis in Childhood: A Primer on Normal Muscle Function and Selected Metabolic Myopathies Characterized by Disordered Energy ProductionLaboratory Diagnosis of Glycogen Diseases 1 February 1965Volume 62, Issue 2Page: 409-411KeywordsBloodExerciseGlycogensLactatesMusclesPyruvate Issue Published: 1 February 1965 PDF DownloadLoading ...