Abstract
McArdle disease (glycogen storage disease type V) is a rare hereditary metabolic myopathy. It can be overlooked clinically because it often presents as chronic asymptomatic hypercreatine phosphokinasemia (hyperCKemia). However, vigorous exercise or infections can trigger severe rhabdomyolysis. We present the case of a patient with long-term idiopathic hyperCKemia who, after contracting an upper respiratory tract infection, developed severe rhabdomyolysis and acute kidney injury. Upon hemodialysis, his renal function recovered and CK levels fell to below baseline, and maintenance therapy with vitamin B6 was also started. A molecular diagnosis of McArdle disease was subsequently made. Whole-exome sequencing revealed homozygous c1538delG (p.Asp511Thr fs*28) mutations in the PYGM gene, which was a novel mutation. Therefore, when investigating idiopathic hyperCKemia, glycogen storage disorders should also be considered.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bosch X, Poch E, Grau JM. Rhabdomyolysis and acute kidney injury. N Engl J Med. 2009;361:62–72.
D’Amico A, Bertini E. Metabolic neuropathies and myopathies. Handb Clin Neurol. 2013;113:1437–55.
Burke J, Hwang P, Anderson L, Lebo R, Gorin F, Fletterick R. Intron/exon structure of the human gene for the muscle isozyme of glycogen phosphorylase. Proteins. 1987;2:77–187.
Izumi R, Suzuki N, Kato K, Warita H, Tateyama M, Nakashima I, Itoyama Y. A case of McArdle disease: efficacy of vitamin B6 on fatigability and impaired glycogenolysis. Intern Med. 2010;49:1623–5.
DiMauro S, Lamperti C. Muscle glycogenoses. Muscle Nerve. 2001;24:984–99.
McArdle B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci. 1951;1:13–35.
Phoenix J, Hopkins P, Bartram C, Beynon RJ, Quinlivan RC, Edwards RH. Effect of vitamin B6 supplementation in McArdle’s disease: a strategic case study. Neuromuscul Disord. 1998;8:210–2.
Lebo RV, Gorin F, Fletterick RJ, Kao FT, Cheung MC, Bruce BD, Kan YW. High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle’s syndrome in chromosome 11. Science. 1984;225:57–9.
DiMauro S, Garone C, Naini A. Metabolic myopathies. Curr Rheumatol Rep. 2010;12:386–93.
Fikri-Benbrahim O, Cazalla-Cadenas F, Vadillo-Bemejo A. From acute renal failure to the diagnosis of McArdle’s disease. Nefrologia. 2013;33:605–6.
Loupy A, Pouchot J, Hertig A, Bonnard G, Bouvard E, Rondeau E. Massive rhabdomyolysis revealing a McArdle disease. Rev Med Interne. 2007;28:501–3.
Kranck S, Wacker P, Milliet N, Brünisholz M. One rare case report of acute renal insufficiency in rhabdomyolysis. Rev Med Suisse Romande. 2002;122:539–41.
Park HJ, Shin HY, Cho YN, Kim SM, Choi YC. The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report. J Korean Med Sci. 2014;29:1021–4.
Vissing J, Haller RG. The effect of oral sucrose on exercise tolerance in patients with McArdle’s disease. N Engl J Med. 2003;349:2503–9.
Hatamizadeh P, Najafi I, Vanholder R, Rashid-Farokhi F, Sanadgol H, Seyrafian S, Mooraki A, Atabak S, Samimagham H, Pourfarziani V, Broumand B, Van Biesen W, Lameire N. Epidemiologic aspects of the Bam earthquake in Iran: the nephrologic perspective. Am J Kidney Dis. 2006;47:428–38.
Ronco C. Extracorporeal therapies in acute rhabdomyolysis and myoglobin clearance. Crit Care. 2005;2:141–2.
Naka T, Jones D, Baldwin I. Fealy N, Bates S, Goehl H, Morgera S, Neumayer HH, Bellomo R. Myoglobin clearance by super high-flux hemofiltration in a case of severe rhabdomyolysis: a case report. Crit Care. 2005;9:R90–5.
Acknowledgements
We thank Takashi Kurashige (Department of Neurology, National Hospital Organization Kure Medical Center) for performing the muscle biopsy on our patient. We thank Dr. Ichizo Nishino (National Institute of Neuroscience, National Center of Neurology and Psychiatry) for evaluating enzymatic activities. We thank Simon Teteris, PhD, from the Edanz Group (http://www.edanzediting.com/ac), for editing the English text of a draft of this manuscript.
Author information
Authors and Affiliations
Contributions
All authors treated the patient and made decisions about the patient’s examinations and therapies. AS and SH reviewed previous publications and drafted the manuscript. TM supervised the manuscript. AS, SH, TA, YY, and TI were the patient’s principal physicians and treated him as an inpatient and outpatient. HI, AM, and SY drafted the diagnostic direction from the perspective of a neurologist, which led to a definite diagnosis. All authors contributed to the interpretation of the etiology and discussion. All authors read and approved the final manuscript.
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that there are no conflicts of interest.
Human and animal rights
This article does not contain studies with human or animal participants.
Informed consent
Written consent to publish this information was obtained from the patient.
Additional information
Publisher’s Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
About this article
Cite this article
Satoh, A., Hirashio, S., Arima, T. et al. Novel Asp511Thr mutation in McArdle disease with acute kidney injury caused by rhabdomyolysis. CEN Case Rep 8, 194–199 (2019). https://doi.org/10.1007/s13730-019-00392-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13730-019-00392-6