Lactate production in McArdle's disease.
A case of McArdle's disease in a man is described in detail and a less complete study of his family is reported. This patient showed the classical features of McArdle's disease and the diagnosis was confirmed by muscle biopsy. Unlike other reported cases of this disorder, this case showed a normal rise in blood lactate levels on ischaemic exercise. This apparently paradoxical finding is discussed. It is suggested that a normal rise in the level of blood lactate on ischaemic exercise should not exclude myophosphorylase deficiency.
D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D006008:Glycogen Storage Disease / Q000097:blood*; D006012:Glycogen Storage Disease Type V / Q000097:blood* / Q000235:genetics; D006334:Heart Function Tests; D006801:Humans; D007773:Lactates / Q000097:blood*; D008297:Male; D005082:Physical Exertion
D007773:Lactates
J Clin Invest. 1959 Nov;38:2044-58
14442994
Lancet. 1962 May 19;1(7238):1045-8
14472393
J Histochem Cytochem. 1955 May;3(3):153-60
14381604