A case of McArdle disease: Efficacy of vitamin B6 on fatigability and impaired glycogenolysis

Rumiko Izumi, Naoki Suzuki, Kazuhiro Kato, Hitoshi Warita, Maki Tateyama, Ichiro Nakashima, Yasuto Itoyama

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)1623-1625
Number of pages3
JournalInternal Medicine
Volume49
Issue number15
DOIs
Publication statusPublished - 2010

Keywords

  • Fatigability
  • McArdle disease
  • Vitamin B6

ASJC Scopus subject areas

  • Internal Medicine

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