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The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report
- Title
- The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report
- Authors
- Park, Hyung Jun; Shin, Ha Young; Cho, Yu Na; Kim, Seung Min; Choi, Young-Chul
- Ewha Authors
- 박형준
- SCOPUS Author ID
- 박형준
- Issue Date
- 2014
- Journal Title
- JOURNAL OF KOREAN MEDICAL SCIENCE
- ISSN
- 1011-8934
1598-6357
- Citation
- JOURNAL OF KOREAN MEDICAL SCIENCE vol. 29, no. 7, pp. 1021 - 1024
- Keywords
- Glycogen Storage Disease Type V; McArdle's Disease; Phosphorylase, Glycogen, Muscle (PYGM)
- Publisher
- KOREAN ACAD MEDICAL SCIENCES
- Indexed
- SCIE; SCOPUS; KCI
- Document Type
- Article
- 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.
- DOI
- 10.3346/jkms.2014.29.7.1021
- Appears in Collections:
- 의료원 > 의료원 > Journal papers
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