Myophosphorylase deficiency (McArdle's disease)

report of a family

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

Research output: Contribution to journalArticle

3 Citations (Scopus)

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

Fingerprint

Glycogen Storage Disease Type V
Deficiency Diseases
Enzymes
Phosphorylases
Siblings
Lactic Acid

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Myophosphorylase deficiency (McArdle's disease) : report of a family. / Mahmud, M. Z.; Howell, R.; Stevenson, R. E.; Gilroy, J.

In: Canadian Journal of Neurological Sciences, Vol. 3, No. 3, 01.12.1976, p. 175-179.

Research output: Contribution to journalArticle

Mahmud, M. Z. ; Howell, R. ; Stevenson, R. E. ; Gilroy, J. / Myophosphorylase deficiency (McArdle's disease) : report of a family. In: Canadian Journal of Neurological Sciences. 1976 ; Vol. 3, No. 3. pp. 175-179.
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