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KMID : 0918520160160020093
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Journal of the Korean Society of Inherited Metabolic Disease
2016 Volume.16 No. 2 p.93 ~ p.101
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The Clinical and Genetic Characteristics of Three Korean Patients with Glycogen Storage Disease Type V (McArdle Disease)
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Lee Sung-Hee
Kang Eun-Gu
Kim Yoon-Myung
Lee Beom-Hee
Kim Gu-Hwan
Yoo Han-Wook
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Abstract
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Purpose: McArdle disease, glycogen storage disease type V (GSD V), is one of the most common adolescent-onset glycogen storage diseases. It is caused by recessive mutations in PYGM encoding myophosphorylase, which is critical to glycogen metabolism. Since only a few korean patients have been reported, we will observe the clinical and genetic features of three korean patients with McArdle disease.
Methods: We retrospectively reviewed the medical records of three patients with genetically confirmed McArdle disease, including the results of forearm ischemic exercise test, electromyogram, nerve conduction velocity, muscle biopsy, and PYGM analysis in peripheral leukocytes.
Results: All three cases were males and their age of symptom onset was 12, 5, 14 years old, respectively. A high basal level of serum creatine kinase was noted in all three patients. They experienced the recurrent episodes of rhabdomyolysis, but second wind phenomenon was not definite. In muscle biopsy, subsarcolemmal space vacuoles including periodic acid schiff stained materials were found in two patients, while no evidence of glycogen storage disease was found in the other. A total of five different mutations, p.Arg50*, p.Trp798Arg, p.Arg50*, p.Glu779del, p.Asp511Thrfs*28 and p.Phe710del, were found in three patients. Avoidance of isometric exercise, aerobic exercise and glucose intake before each exercise were recommended for all patients.
Conclusion: The three Korean patients with McArdle disease showed the typical manifestations of the condition. The most mutations were private. Therefore, identification of more cases with long-term follow-up will be required to understand the clinical and genetic features of this disease among Korean population.
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KEYWORD
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Glycogen storage disease V (McArdle disease), Korea, PYGM
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