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J Korean Med Sci. 2014 Jul;29(7):1021-4. doi: 10.3346/jkms.2014.29.7.1021. Epub 2014 Jul 11.

The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report.

Author information

  • 1Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
  • 2Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
  • 3Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ; Rehabilitation Institute of Neuromuscular Disease, Yonsei University College of Medicine, Seoul, Korea.

Abstract

Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis with characteristic clinical and laboratory findings. A 32-yr-old woman complained of exercise intolerance and myoglobulinuria since early adolescence. She reported several episodes of second-wind phenomenon. Physical examination did not show any neurological abnormality, including fixed muscle weakness or atrophy. Serum creatine kinase level was 1,161 IU/L at rest. The result of the non-ischemic forearm exercise test was compatible with GSD-V. Mutation analysis identified the compound heterozygous mutations of the PYGM, p.D510fs and p.F710del, which has not yet been reported in Korea. The present case recognizes that detail clinical and laboratory analysis is the first step in the diagnosis of GSD-V.

KEYWORDS:

Glycogen Storage Disease Type V; McArdle's Disease; Phosphorylase, Glycogen, Muscle (PYGM)

PMID:
25045239
[PubMed - in process]
PMCID:
PMC4101771
Free PMC Article
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