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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 JunShin, Ha YoungCho, Yu NaKim, Seung MinChoi, Young-Chul
Ewha Authors
박형준
SCOPUS Author ID
박형준scopusscopus
Issue Date
2014
Journal Title
JOURNAL OF KOREAN MEDICAL SCIENCE
ISSN
1011-8934JCR Link1598-6357JCR Link
Citation
vol. 29, no. 7, pp. 1021 - 1024
Keywords
Glycogen Storage Disease Type VMcArdle's DiseasePhosphorylase, Glycogen, Muscle (PYGM)
Publisher
KOREAN ACAD MEDICAL SCIENCES
Indexed
SCI; SCIE; SCOPUS; KCI WOS
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
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의료원 > 의료원 > Journal papers
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