Myophosphorylase deficiency (McArdle's disease): report of a family

M. Z. Mahmud, R. Howell, R. E. Stevenson, J. Gilroy

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Abstract

The clinical and biochemical findings are presented of two brothers suffering from McArdle's disease (myophosphorylase deficiency). Tissue enzyme estimations and lactate levels were done in affected and non affected members of the family. Affected members showed absence of phosphorylase enzyme by histochemical and quantitative estimation. No quantitative abnormalities were found in other enzyme systems of glycolytic pathways in the family investigated. Various other aspects of clinical features, biochemical abnormalities and inheritance are discussed.

Original languageEnglish
Pages (from-to)175-179
Number of pages5
JournalCanadian Journal of Neurological Sciences
Volume3
Issue number3
StatePublished - Dec 1 1976
Externally publishedYes

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ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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