The Significance of Clinical and Laboratory Features in the Diagnosis of Glycogen Storage Disease Type V: A Case Report.
10.3346/jkms.2014.29.7.1021
- Author:
Hyung Jun PARK
1
;
Ha Young SHIN
;
Yu Na CHO
;
Seung Min KIM
;
Young Chul CHOI
Author Information
1. Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
- Publication Type:Case Reports
- Keywords:
Glycogen Storage Disease Type V;
McArdle's Disease;
Phosphorylase, Glycogen, Muscle (PYGM)
- MeSH:
Adult;
Base Sequence;
Creatine Kinase/blood;
Exons;
Female;
Frameshift Mutation;
Gene Deletion;
Genotype;
Glycogen Phosphorylase, Muscle Form/genetics;
Glycogen Storage Disease Type V/*diagnosis/genetics/pathology;
Humans;
Pedigree;
Sequence Analysis, DNA
- From:Journal of Korean Medical Science
2014;29(7):1021-1024
- CountryRepublic of Korea
- Language:English
-
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.
