McArdle's Syndrome with Previously Unreported Electrocardiographic and Serum Enzyme Abnormalities

Abstract

Case Studies1 February 1965McArdle's Syndrome with Previously Unreported Electrocardiographic and Serum Enzyme AbnormalitiesGERALD RATINOV, WILLIAM P. BAKER, KENNETH F. SWAIMAN, M.D.GERALD RATINOVSearch for more papers by this author, WILLIAM P. BAKERSearch for more papers by this author, KENNETH F. SWAIMAN, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-62-2-328 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptIn 1951, a metabolic myopathy due to deficient glycogen breakdown in skeletal muscle was described by McArdle (1). The responsible enzymatic deficiency in similar cases was not demonstrated until 1959. Pearson and associates (2-4) and Schmid and associates (5-7) demonstrated an absence of muscle phosphorylase in their cases. Since then several cases have been reported by various authors (8-12).This inborn error leads to insufficient glycogenosis and relative lack of formation of products of anaerobic metabolism. The serum lactic acid does not increase, and it may even decrease during exercise under these circumstances. This response to exercise is a simple...References1. MCARDLE B: Myopathy due to defect in muscle glycogen breakdown. Clin. Sci. 10: 13, 1951. MedlineGoogle Scholar2. MOMMAERTSILLINGWORTHPEARSONGUILLORYSERAYDARIAN WFBCMRJK: A functional disorder of muscle associated with the absence of phosphorylase. Proc. Nat. Acad. Sci. USA 45: 791, 1959. CrossrefMedlineGoogle Scholar3. PEARSONRENIERMOMMAERTS CMDGWF: Defect in muscle phosphorylase: a newly defined human disease. Clin. Res. 7: 298, 1959. Google Scholar4. PEARSONRENIERMOMMAERTS CMDGWF: A metabolism myopathy due to absence of muscle phosphorylase. Amer. J. Med. 30: 502, 1961. CrossrefMedlineGoogle Scholar5. SCHMIDMAHLER RR: Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J. Clin. Invest. 38: 2044, 1959. CrossrefMedlineGoogle Scholar6. SCHMIDROBBINSTRAUT RPWRR: Glycogen synthesis in muscle lacking phosphorylase. Proc. Nat. Acad. Sci. USA 45: 1236, 1959. CrossrefMedlineGoogle Scholar7. SCHMIDHAMMAKER RL: Hereditary absence of muscle phosphorylase (McArdle's syndrome). New Eng. J. Med. 264: 223, 1961. CrossrefMedlineGoogle Scholar8. MAHLERMELLICKHUGHES RRSBP: McArdle's syndrome. Lancet 1: 1234, 1962. CrossrefGoogle Scholar9. HOCKADAYDOWNEY TDJA: McArdle's syndrome. Ibid., p. 1185. Google Scholar10. ENGELEYERMANWILLIAMS WKEIHE: Late onset type of skeletal muscle phosphorylase deficiency: a new clinical variety with completely and partially affected subjects. New Eng. J. Med. 268: 135, 1963. CrossrefGoogle Scholar11. THOMSONMACLAIERENPRINEAS WHJCJW: Skeletal muscle glycogenosis: an investigation of two dissimilar cases. J. Neurol. 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New York Academic Press, New York, 1955, pp. 200-202. CrossrefGoogle Scholar18. ILLINGWORTHCORI BGT: Crystalline muscle phosphorylase, in Biochemical Preparations, John Wiley & Sons, Inc., New York, 1953, pp. 1-9. Google Scholar19. SWAIMANSANDLER KFB: The use of serum creatine phosphokinase and other serum enzymes in the diagnosis of progressive muscular dystrophy. J. Pediat. 63: 1116, 1963. CrossrefMedlineGoogle Scholar20. FIELD RA: Glycogen deposition diseases, in The Metabolic Basis of Inherited Disease, edited by STANBURY, J. B. et al. McGraw-Hill, New York, 1960, p. 161. Google Scholar21. EHLERSENGLE KHMA: Glycogen storage disease of the myocardium. Amer. Heart J. 65: 145, 1963. CrossrefGoogle Scholar22. SCHIEBLER TH: Herzstudie II mitteilung— histologische, histochemische, und experimentelle untersuchungen am atrioventrikularsystem von huf—unde nagetieren. Z. Zellforsch. 43: 243, 1955 as cited in reference 23. CrossrefMedlineGoogle Scholar23. DEHAAN RL: Differentiation of atrioventricular conducting system of the heart. Circulation 24: 458, 1961. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: GERALD RATINOV; WILLIAM P. BAKER; KENNETH F. SWAIMAN, M.D.Affiliations: Great Lakes, Illinois and Minneapolis, MinnesotaFrom the U. S. Naval Hospital, Great Lakes, Ill., and the Division of Neurology, University of Minnesota, Minneapolis, Minn.The biochemical studies were performed with the support of research and training grant 2 from the Vocational Rehabilitation Administration, Department of Health, Education, and Welfare, Washington, D. C.Requests for reprints should be addressed to Gerald Ratinov, Lt. (MC) USNR, U. S. Naval Hospital, Great Lakes, Ill. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byMetabolic Myopathies IMcArdle Disease: A Unique Study Model in Sports MedicineUnforeseen Cardiac Involvement in McArdle's DiseaseMetabolic Myopathies IDiseases Associated with Primary Abnormalities in Carbohydrate MetabolismDisorders of intermediary metabolismReferencesGlycogen Storage Disease Associated With Left Ventricular Aneurysm in an Elderly Patient.Angina in McArdle's disease.Specific heart muscle diseasesMcArdle's disease.McArdle's disease.A new variant of late-onset myophosphorylase deficiencyRhabdomyolysis And Myoglobinuria in ChildhoodHeat illness. II. PathogenesisCardiac involvement in inherited disorders of metabolismInborn Errors of Glycogen MetabolismMcArdle's diseaseMcArdle's myopathyMcArdle's SyndromeOccasional SurveyHistopathology of McArdle's disease in a familyBiochemical investigation of an unusual case of glycogenosisMcArdle's syndrome: a review and a preliminary report of four further casesChemical Laboratory Studies in Muscular DiseaseMcArdle-Syndrom (Myopathie bei fehlender Muskelphosphorylase)Laboratory Diagnosis of Glycogen DiseasesCardiovascular and Metabolic Responses to Exercise in a Patient with McArdle's Syndrome 1 February 1965Volume 62, Issue 2Page: 328-335KeywordsBradycardiaElectrocardiographyExerciseGlycogen storage diseasesGratitudeMusclesNeurologyResearch grantsResearch laboratoriesSkeletal muscles ePublished: 1 December 2008 Issue Published: 1 February 1965 PDF downloadLoading ...