Skip to main content
NCBI home page
Canadian Medical Association Journal logoLink to Canadian Medical Association Journal
. 1966 May 7;94(19):977–985.

Myoglobinuria and Skeletal Muscle Phosphorylase Deficiency

Report of a Case of McArdle's Disease

J C Nixon, W K Hobbs, J Greenblatt
PMCID: PMC1936628  PMID: 4952390

Abstract

Investigation of a patient complaining of exercise-induced dark urine, pain, stiffness and tenderness of skeletal muscle revealed findings characteristic of McArdle's disease. The dark urine was attributable to the excretion of myoglobin, and an ischemic exercise test failed to demonstrate the usual rise and fall in blood lactate and pyruvate. Enzyme assays of skeletal muscle showed an absence of phosphorylase, a slight increase in phosphorylase b kinase and a slight decrease in phosphoglucomutase. Chemical and histochemical analyses demonstrated an increase in the skeletal muscle glycogen content and an enlargement of the muscle cells. No abnormality of liver glycogen metabolism was found. In the absence of specific therapy, an effective and practical form of treatment is reduction of exercise below the threshold of symptoms.

Full text

PDF
977

Images in this article

979Fig. 1
on p.979
979Fig. 2
on p.979
982Fig. 6
on p.982
982Fig. 7
on p.982
983Fig. 8
on p.983

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. KOSSMANN R. J., CAMP W. A., ENGLE R. L., Jr Idiopathic recurrent rhabdomyolysis with myoglobinuria. Case report, with diagnostic recommendations and demonstration of unusual heme compounds in the urine. Am J Med. 1963 Apr;34:554–564. doi: 10.1016/0002-9343(63)90079-2. [DOI] [PubMed] [Google Scholar]
  2. KREBS E. G., LOVE D. S., BRATVOLD G. E., TRAYSER K. A., MEYER W. L., FISCHER E. H. PURIFICATION AND PROPERTIES OF RABBIT SKELETAL MUSCLE PHOSPHORYLASE B KINASE. Biochemistry. 1964 Aug;3:1022–1033. doi: 10.1021/bi00896a003. [DOI] [PubMed] [Google Scholar]
  3. MELLICK R. S., MAHLER R. F., HUGHES B. P. McArdle's syndrome: phosphorylase-deficient myopathy. Lancet. 1962 May 19;1(7238):1045–1048. doi: 10.1016/s0140-6736(62)92145-1. [DOI] [PubMed] [Google Scholar]
  4. Mommaerts W. F., Illingworth B., Pearson C. M., Guillory R. J., Seraydarian K. A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE. Proc Natl Acad Sci U S A. 1959 Jun;45(6):791–797. doi: 10.1073/pnas.45.6.791. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. PEARSON C. M., RIMER D. G. Evidence for direct utilization of fructose in working muscle in man. Proc Soc Exp Biol Med. 1959 Apr;100(4):671–672. doi: 10.3181/00379727-100-24739. [DOI] [PubMed] [Google Scholar]
  6. PEARSON C. M., RIMER D. G., MOMMAERTS W. F. A metabolic myopathy due to absence of muscle phosphorylase. Am J Med. 1961 Apr;30:502–517. doi: 10.1016/0002-9343(61)90075-4. [DOI] [PubMed] [Google Scholar]
  7. RATINOV G., BAKER W. P., SWAIMAN K. F. MCARDLE'S SYNDROME WITH PREVIOUSLY UNREPORTED ELECTROCARDIOGRAPHIC AND SERUM ENZYME ABNORMALITIES. Ann Intern Med. 1965 Feb;62:328–334. doi: 10.7326/0003-4819-62-2-328. [DOI] [PubMed] [Google Scholar]
  8. ROWLAND L. P., FAHN S., SCHOTLAND D. L. MCARDLE'S DISEASE. HEREDITARY MYOPATHY DUE TO ABSENCE OF MUSCLE PHOSPHORYLASE. Arch Neurol. 1963 Oct;9:325–342. doi: 10.1001/archneur.1963.00460100013001. [DOI] [PubMed] [Google Scholar]
  9. SALMON S. E., TURNER C. E. MCARDLE'S DISEASE PRESENTING AS CONVULSION AND RHABDOMYOLYSIS. Am J Med. 1965 Jul;39:142–146. doi: 10.1016/0002-9343(65)90254-8. [DOI] [PubMed] [Google Scholar]
  10. SCHMID R., HAMMAKER L. Hereditary absence of muscle phosphorylase (McArdle's syndrome). N Engl J Med. 1961 Feb 2;264:223–225. doi: 10.1056/NEJM196102022640504. [DOI] [PubMed] [Google Scholar]
  11. SCHMID R., MAHLER R. Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J Clin Invest. 1959 Nov;38:2044–2058. doi: 10.1172/JCI103983. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. SHY G. M. MUSCLE PHOSPHORYLASE DEFICIENCY. Ann Intern Med. 1965 Feb;62:409–411. doi: 10.7326/0003-4819-62-2-409. [DOI] [PubMed] [Google Scholar]
  13. TOBIN R. B., COLEMAN W. A. A FAMILY STUDY OF PHOSPHORYLASE DEFICIENCY IN MUSCLE. Ann Intern Med. 1965 Feb;62:313–327. doi: 10.7326/0003-4819-62-2-313. [DOI] [PubMed] [Google Scholar]
  14. WROBLEWSKI F., ROSS C., GREGORY K. Isoenzymes and myocardial infarction. N Engl J Med. 1960 Sep 15;263:531–536. doi: 10.1056/NEJM196009152631102. [DOI] [PubMed] [Google Scholar]

Articles from Canadian Medical Association Journal are provided here courtesy of Canadian Medical Association

RESOURCES