The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type V: A case report

Hyung Jun Park, Ha Young Shin, Yu Na Cho, Seung Min Kim, Young Chul Choi

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)1021-1024
Number of pages4
JournalJournal of Korean medical science
Volume29
Issue number7
DOIs
Publication statusPublished - 2014

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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