Lactate production in McArdle's disease

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Abstract
Summary: 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.