Phosphorylase deficiency associated with isometric exercise intolerance

Neurology. 1976 Sep;26(9):896-8. doi: 10.1212/wnl.26.9.896.

Abstract

In the patient reported here, most of the clinical and biochemical correlates of McArdle's disease were present; however, symptoms developed after isometric rather than after isotonic exercise. Histochemical reactions and assay of muscle homogenates confirmed the absence of phosphorylase; however, venous serum lactate increased in the arm after isometric and isotonic ischemic exercise, although the increase was significantly less than in a normal control. Although the symptoms differ significantly from those in McArdle's disease, this disorder could be a variant.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Muscles / enzymology
  • Muscular Diseases / enzymology*
  • Phosphorylases / deficiency*
  • Physical Exertion*

Substances

  • Phosphorylases