Case Report

McArdle Disease Presenting as Acute Renal Failure

Authors: Jayasree Pillarisetti, MD, Awad Ahmed, DO

Abstract

In 1951, McArdle described a glycogen storage disorder which presents primarily as a myopathy. It is characterized by muscle pain, weakness and exercise intolerance with elevated creatine kinase from rhabdomyolysis. The pathophysiology involves a deficiency of myophosphorylase enzyme resulting in an inability to degrade glycogen stores. We present a novel case of McArdle disease (glycogen storage disease V [GSDV]) in a patient who had sickle cell trait and bulimia. The disease went unrecognized despite several admissions to the hospital with increased creatine kinase and muscle myopathy until the patient’s initial presentation with acute renal failure.


Key Points


* Elevated creatine kinase levels should never be ignored, especially if the patient presents with repeated episodes.


* Sickle cell trait can cause creatine kinase elevation, although this only occurs at high altitudes or in circumstances of extreme exertion.


* Bulimia is a predisposing factor for rhabdomyolysis by causing electrolyte disturbances such as hypokalemia and hypomagnesemia.

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References

1. Haller RG. Treatment of McArdle disease. Arch Neurol 2000;57:923–924.
 
2. DiMauro S, Hartlage PL. Fatal infantile form of muscle phosphorylase deficiency. Neurology 1978;28:1124–1129.
 
3. Pourmand R, Sanders DB, Corwin HM. Late-onset McArdle’s disease with unusual electromyographic findings. Arch Neurol 1983;40:374–377.
 
4. Wolfe GI, Baker NS, Haller RG, et al. Barohn McArdle’s disease presenting with asymmetric, late-onset arm weakness. Muscle Nerve 2000;23:641–645.
 
5. Voduc N, Webb KA, D’Arsigny C, et al. McArdle’s disease presenting as unexplained dyspnea in a young woman. Can Respir J 2004;11:163–167.
 
6. Livingstone C, Al Riyami S, Wilkins P, Ferns GA. McArdle’s disease diagnosed following statin-induced myositis. Ann Clin Biochem 2004;41:338–340.
 
7. Ito Y, Saito K, Shishikura K, et al. A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes. Brain Dev 2003;25:438–441.
 
8. Tsushima K, Koyama S, Ueno M, et al. Rhabdomyolysis triggered by an asthmatic attack in a patient with McArdle disease. Intern Med 2001;40:131–134.
 
9. Dincer HE, Raza T. Compartment syndrome and fatal rhabdomyolysis in sickle cell trait. WMJ 2005;104:67–71.
 
10. Grunfeld JP, Ganeval D, Chanard J, et al. Acute renal failure in McArdle’s disease: report of two cases. N Engl J Med 1972;286:1237–1241.
 
11. Saad EB. Rhabdomyolysis and Myoglobinuria. 1997. Available at http://www.medstudents.com.br/terin/terin3.htm. Accessed January 6, 2007.
 
12. Slonim A, Goans PJ. Myopathy in McArdle’s syndrome: improvement with a high-protein diet. N Engl J Med 1985;312:355–359.
 
13. Vissing J, Haller RG. The effect of oral sucrose on exercise tolerance in patients with McArdle’s disease. N Engl J Med 2003;349:2503–2509.
 
14. Beynon RJ, Bartram C, Hopkins P, et al. McArdle’s disease: molecular genetics and metabolic consequences of the phenotype. Muscle Nerve 1995;3:S18–S22.
 
15. Pari G, Shoubridge E, Crerar MM, et al. In vitro and in vivo adenovirus-mediated gene transfer in myophosphorylase deficiency. Ann Neurol 1998;44:989.
 
16. Ollivier K, Hogrel JY, Gomez-Merino D, et al. Exercise tolerance and daily life in McArdle’s disease. Muscle Nerve 2005;31:637–641.
 
17. Lewis SF, Haller RG. The pathophysiology of McArdle’s disease: clues to regulation in exercise and fatigue. J Appl Physiol 1986;61:391–401.