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Myophosphorylase Deficiency (McArdle's Disease): Report of a Family

Published online by Cambridge University Press:  18 September 2015

M. Zafar Mahmud ,
R. Rodney Howell ,
Roger E. Stevenson  and
John Gilroy
M. Zafar Mahmud
Affiliation:
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan
R. Rodney Howell
Affiliation:
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan
Roger E. Stevenson
Affiliation:
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan
John Gilroy*
Affiliation:
Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan
*
Dept. of Neurology, Wayne State University School of Medicine, 3900 John R, Detroit, Michigan 48201 U.S.A.
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The clinical and biochemical findings are presented of two brothers suffering from McArdle's Disease (Myophosphorylase Deficiency). Tissue enzyme estimations and lactate levels were done in affected and non-affected members of the family. Affected members showed absence of phosphorylase enzyme by histochemical and quantitative estimation. No quantitative abnormalities were found in other enzyme systems of glycolytic pathways in the family investigated. Various other aspects of clinical features, biochemical abnormalities and inheritance are discussed.

Information

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 3 , Issue 3 , August 1976 , pp. 175 - 179
Copyright
Copyright © Canadian Neurological Sciences Federation 1976

References

REFERENCES

Bale, P., Hammet, J.F. and Neale, F.C. (1967) Histopathology of McArdle’s disease in a family. Path. Bact. 94: 293–300.CrossRefGoogle ScholarPubMed
Bank, W.J., DiMauro, S., Rowland, L.P. (1972). Renal failure in McArdle’s disease. New Eng. J. Med. 287: 1102.Google ScholarPubMed
Bank, W.J., Dimauro, S., Rowland, L.R., Milestone, R. (1972). Hétérozygotes in muscle phosphorylase deficiency. Trans. Amer. Neurol. Assoc. 97: 179–182.Google Scholar
Brunberg, J.A., McDormlch, W.F. and Schochet, S. (1971). Type III glycogenesis. Arch. Neurol. 25: 171–178.CrossRefGoogle Scholar
Cochrane, P., Hughes, R.R., Buxton, P.H. and Yorke, R.A. (1973). Myophosphorylase deficiency (McArdle’s Disease) in two interrelated families. J. Neurol. Neurosurg. Psychiat. 36: 217–224.CrossRefGoogle ScholarPubMed
Dawson, D.M., Spong, F.L. and Harrington, J.F. (1968). McArdle’s disease: lack of muscle phosphorylase. Ann. Int. Med. 69: 229–235.CrossRefGoogle ScholarPubMed
Dyken, M.L., Smith, D.M., and Peake, R.L. (1967). An electromyographic diagnostic screening test in McArdle’s disease and a case report. Neurology (Minneap.) 17: 45–50.CrossRefGoogle ScholarPubMed
Fattah, S.M., Rubulis, A., and Faloon, W.W. (1970). McArdle’s disease: metabolic studies in a patient and review of the syndrome. Amer. J. Med. 48: 693–699.CrossRefGoogle Scholar
Fink, A.A., Hefferan, P.M. and Howell, R.R. (1975). Enzymatic characterization of the Avian glycogen body. Comparative Biochem. and Physiol. 50B: 525.Google ScholarPubMed
Grunfeld, J.P.. Ganeval, D.. Chanard, J., et al (1972). Acute renal failure in McArdle’s disease: report of two cases. New Eng. J. Med. 286: 1237–1241.CrossRefGoogle ScholarPubMed
Hockaday, T.D.R., Downey, J.A., and Mottram, R.F. (1967). A case of McArdle’s disease in a family. Path. Bact. 94: 293–300.Google Scholar
Howell, R. RODNEY, “The Glycogen Storage Diseases,” Stanbury, JOHN B., Wyngaarden, JAMES B., Fredrickson, DONALD S., The Metabolic Basis of Inherited Disease. Third Edition, U.S.A.: McGraw Hill, Inc., 1972.Google Scholar
McArdle, B. (1951). Myopathy due to a defect in muscle glycogen breakdown. Clin. Sci. 10: 13–35.Google ScholarPubMed
Mommaerts, W.F.H.M., Illingworth, B., Pearson, C.M., Guillory, R.J. and Seraydraian, K. (1959). A functional disorder of muscle associated with the absence of phosphorylase. Proc. Nat. Acad. Sci. 45: 791–797.CrossRefGoogle ScholarPubMed
Nolte, J. and Schollmeyer, P. (1973). Metabolic adaptation in muscle of phosphorylase deficiency (McArdle’s disease). Klin Wschr. 51: 250–251.CrossRefGoogle ScholarPubMed
Pernow, B.B., R.J. and Jennings, D.B. (1967). The second wind phenomenon in McArdle’s syndrome. Acta Medica Scandinavia, Supple. 472: 294–307.CrossRefGoogle ScholarPubMed
Pearson, C.M., Rimer, D.G., and Mommaerts, W.F.H.M. (1961). A metabolic myopathy due to absence of muscle phosphorylase. Amer. J. Med. 30: 502–517.CrossRefGoogle Scholar
Rowland, L.P.. Fahn, S. and Schotland, D.L. (1963). McArdle’s disease: hereditary myopathy due to absence of muscle phosphorylase. Arch. Neurol. 9: 325–342.CrossRefGoogle ScholarPubMed
Rowland, L.P., Lovelace, R.E.. Schotland, D.L.. Araki, S. and Carmel, P. (1966). The clinical diagnosis of McArdle’s disease. Neurology 16: 93–100.CrossRefGoogle ScholarPubMed
Salmon, S.E. and Turner, C.E. (1965). McArdle’s disease presenting as convulsion and rhabdomyolysis. Amer. J. Med. 39: 142–146.CrossRefGoogle Scholar
Salter, R.H., Adamson, D.G. and Pearce, G.W. (1967). McArdle’s syndrome (myophosphorylase deficiency): a study of a family. Quart. J. Med. 36: 565–578.Google ScholarPubMed
Satoyoshi, E. and Kowa, K. (1967). A myopathy due to glycolytic activity. Arch. Neurol. 17: 248.CrossRefGoogle Scholar
Schmid, R. and Mahler, R. (1959). Chronic progressive myopathy with myoglobinuria: demonstration of glycogenolytic defect in the muscle. J. Clin. Invest. 38: 2044–58.CrossRefGoogle ScholarPubMed
Schmid, R. and Hammaker, L. (1961). Hereditary absence of muscle phosphorylase (McArdle’s syndrome). New. Eng. J. Med. 264: 223–225.CrossRefGoogle ScholarPubMed
Tauri, S., Okuno, G.. Ikura, Y.. Tanaka, T., Suda, M. and Nishikawa, M. (1965). Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenesis. Biochem. Biophys. Res. Commun. 19: 517–523.CrossRefGoogle Scholar
Tobin, R.B. and Coleman, W.A. (1965). A family study of phosphorylase deficiency in muscle. Ann. Int. Med. 62: 313–335.CrossRefGoogle ScholarPubMed
Upton, A.R.M., McComas, A.J. and Bianchi, F.A. (1973). Neuropathy in McArdle’s syndrome. New Eng. J. Med. 289: 750.Google ScholarPubMed