title: The significance of clinical and laboratory features in the diagnosis of glycogen storage disease type v: a case report.
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.
authors.affiliation: Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
authors.forename: Hyung Jun
authors.identifier: 0000-0003-4165-8901
authors.initials: HJ
authors.lastname: Park
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Ha Young
authors.identifier: 0000-0002-4408-8265
authors.initials: HY
authors.lastname: Shin
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Yu Na
authors.identifier: 0000-0003-2865-6012
authors.initials: YN
authors.lastname: Cho
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Seung Min
authors.identifier: 0000-0002-4384-9640
authors.initials: SM
authors.lastname: Kim
authors.affiliation: Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ; Rehabilitation Institute of Neuromuscular Disease, Yonsei University College of Medicine, Seoul, Korea.
authors.forename: Young-Chul
authors.identifier: 0000-0001-5525-6861
authors.initials: YC
authors.lastname: Choi
mesh_terms: D000328:Adult; D001483:Base Sequence; D003402:Creatine Kinase / Q000097:blood; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D017353:Gene Deletion; D005838:Genotype; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D024982:Glycogen Phosphorylase, Muscle Form; D003402:Creatine Kinase
keywords: Glycogen Storage Disease Type V; McArdle's Disease; Phosphorylase, Glycogen, Muscle (PYGM)