Myophosphorylase deficiency (McArdle's disease): report of a family.
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.
D000328:Adult; D005260:Female; D006008:Glycogen Storage Disease / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D009132:Muscles / Q000378:metabolism; D010375:Pedigree