A Family Study of Phosphorylase Deficiency in Muscle
Authors: RICHARD B. TOBIN
Journal: Annals of Internal Medicine (1965)

Article1 February 1965A Family Study of Phosphorylase Deficiency in MuscleRICHARD B. TOBIN, M.D., WILLIAM A. COLEMAN, M.D.RICHARD B. TOBIN, M.D.Search for more papers by this author, WILLIAM A. COLEMAN, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-62-2-313 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe first description of a myopathy due to a defect of muscle glycolysis and characterized by muscular weakness and pain on exertion was made by McArdle in 1951 (1). He described a 30year-old man with a lifelong history of pain, stiffness, and weakness of muscles occurring with exertion. The symptoms lasted minutes to hours and disappeared with rest but became more severe if exercise was continued after the onset of difficulty. McArdle showed that this patient did not produce lactic acid during ischemic exercise of the forearm. He concluded that the patient had a defect of muscle glycolysis and noted...References1. MCARDLE B: Myopathy due to a defect in muscle glycogen breakdown. Clin. Sci. 10: 13, 1951. MedlineGoogle Scholar2. PEARSONRIMER CMDG: Evidence for direct utilization of fructose in working muscle in man. Proc. Soc. Exp. Biol. Med. 100: 671, 1959. CrossrefMedlineGoogle Scholar3a. SCHMIDMAHLER RR, as reported by SHY, G. M.: Some metabolic and endocrinological aspects of disorders of striated muscle, in Neuromuscular Disorders, 1958. Research Publication of the Association for Research of Nervous and Mental Diseases, Vol. 38, Williams & Wilkins Co., Baltimore, 1960. Google Scholar3b. SCHMIDROBBINSTRAUT RPWRR: Glycogen synthesis in muscle lacking phosphorylase. Proc. Nat. Acad. Sci., USA 45: 1236, 1959. CrossrefMedlineGoogle Scholar4. MOMMAERTSILLINGWORTHPEARSONGUILLORYSERAYDARIAN WFBCMRJK: Functional disorder of muscle associated with the absence of phosphorylase. Proc. Nat. Acad. Sci., USA 45: 791, 1959. CrossrefMedlineGoogle Scholar5. LARNERVILLAR-PALASI JC: Enzymes in glycogen storage myopathy. Ibid., p. 1234. Google Scholar6. PEARSONRIMERMOMMAERTS CMDWF: A metabolic myopathy due to absence of muscle phosphorylase. Amer. J. Med. 30: 502, 1961. CrossrefMedlineGoogle Scholar7. SCHMIDMAHLER RR: Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J. Clin. Invest. 38: 2044, 1959. CrossrefMedlineGoogle Scholar8. SCHMIDHAMMAKER RL: Hereditary absence of muscle phosphorylase (McArdle's syndrome). New Eng. J. Med. 264: 223, 1961. CrossrefMedlineGoogle Scholar9. SUTHERLANDWOSILAIT EWWD: The relationship of epinephrine and glucagon to liver phosphorylase. I. Liver phosphorylase; preparation and properties. J. Biol. Chem. 218: 459, 1956. CrossrefMedlineGoogle Scholar10. 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 Scholar11. MELLICKMAHLERHUGHES RSRFBP: McArdle's syndrome. Phosphorylase-deficient myopathy. Lancet 1: 1045, 1962. CrossrefMedlineGoogle Scholar12. THOMSONMACLAURINPRINEAS WHJCJW: Skeletal muscle glycogenosis; an investigation of two dissimilar cases. J. Neurol. Neurosurg. Psychiat. 26: 60, 1963. CrossrefMedlineGoogle Scholar13. ROWLANDFAHNSCHOTLAND LPSDL: McArdle's disease: hereditary myopathy due to absence of muscle phosphorylase. Arch. Neurol. (Chicago) 9: 325, 1963. CrossrefMedlineGoogle Scholar14. BARKERSUMMERSON SBWH: The colorimetric determination of lactic acid in biological material. J. Biol. Chem. 138: 535, 1941. CrossrefGoogle Scholar15. FRIEDEMANNHAUGEN TEGE: Pyruvic acid. II. The determination of keto acids in blood and urine. J. Biol. Chem. 147: 415, 1943. CrossrefGoogle Scholar16. HUCKABEE WE: Control of concentration gradients of pyruvate and lactate across cell membranes in blood. J. Appl. Physiol. 9: 163, 1956. CrossrefMedlineGoogle Scholar17. MCARDLE B: Metabolic myopathies: the glycogenoses affecting muscle, and hypo- and hyperkalemic periodic paralysis. Amer. J. Med. 35: 661, 1963. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Rochester, New YorkFrom the Departments of Medicine and Physiology, University of Rochester School of Medicine and Dentistry, Rochester, N. Y.This investigation was supported by grant A 1743 from the National Institute of Arthritis and Metabolic Diseases, U. S. Public Health Service, Bethesda, Md., and grant FR-44-03 from the Division of Research Facilities and Resources, National Institutes of Health, U. S. Public Health Service, Bethesda, Md.A preliminary report of this paper was presented at a regional meeting of the American College of Physicians, Syracuse, N. Y. on October 27, 1961.Requests for reprints should be addressed to Richard B. Tobin, M.D., Department of Medicine, University of Rochester School of Medicine, 260 Crittenden Blvd., Rochester, N. Y. 14620. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byForearm Semi-ischemic Exercise Test in Pediatric PatientsMyophosphorylase deficiency: An unusually severe form with myoglobinuriaRhabdomyolysis in Childhood: A Primer on Normal Muscle Function and Selected Metabolic Myopathies Characterized by Disordered Energy ProductionA new variant of late-onset myophosphorylase deficiencyMyophosphorylase Deficiency (McArdle's Disease): Report of a FamilyHeat illness. II. PathogenesisControl of coronary intercapillary distance: Effect of arterial PCO2 and pHNormal pregnancy and successful delivery in myophosphorylase deficiency (McArdle's disease)Evidence for Inorganic Phosphate as the Initiator of Post-Contraction Hyperaemia in Skeletal MuscleMcArdle's diseaseGlucagonHereditäre MyopathienBLOOD FLOW AND METABOLISM IN SKELETAL MUSCLEGlycogen-Storage Diseases**This review is dedicated to Carl F. Cori on the occasion of his seventieth birthday.: Types I, III, IV, V, VII and Unclassified GlycogenosesHistopathology of McArdle's disease in a familyAcute renal failure due to heat injuryBiochemical investigation of an unusual case of glycogenosisMcArdle's syndrome: a review and a preliminary report of four further casesMcArdle-Syndrom (Myopathie bei fehlender Muskelphosphorylase)Laboratory Diagnosis of Glycogen Diseases 1 February 1965Volume 62, Issue 2Page: 313-327KeywordsExerciseLactic acidMedical servicesMetabolic disordersMusclesMuscular weaknessMyalgiaPrevention, policy, and public healthResearch facilitiesStiffness ePublished: 1 December 2008 Issue Published: 1 February 1965 PDF downloadLoading ...