Document Detail

A case of McArdle disease: efficacy of vitamin B6 on fatigability and impaired glycogenolysis.
MedLine Citation:
PMID:  20686302     Owner:  NLM     Status:  In-Process    
McArdle disease is a glycogenetic myopathy caused by a deficit of myophosphorylase inherited in an autosomal recessive pattern. Here, we report a case of McArdle disease in which fatigability was the only subjective complaint. Objective neurological findings were normal except for very mild muscle weakness in limbs and an elevated serum creatine kinase level. Ischemic forearm exercise test showed deficient glycogenolysis. In the muscle biopsy specimen, periodic acid Schiff (PAS) stained subsarcolemmal glycogen was increased and the muscle phosphorylase A activity was decreased. After administration of vitamin B6, fatigability was diminished and ischemic forearm exercise test showed improved glycogenolysis. Vitamin B6 may be beneficial for McArdle disease, especially for its easy fatigability.
Rumiko Izumi; Naoki Suzuki; Kazuhiro Kato; Hitoshi Warita; Maki Tateyama; Ichiro Nakashima; Yasuto Itoyama
Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2010-08-02
Journal Detail:
Title:  Internal medicine (Tokyo, Japan)     Volume:  49     ISSN:  1349-7235     ISO Abbreviation:  Intern. Med.     Publication Date:  2010  
Date Detail:
Created Date:  2010-08-05     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9204241     Medline TA:  Intern Med     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  1623-5     Citation Subset:  IM    
Department of Neurology, Tohoku University School of Medicine, Sendai.
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