Two boys (maternal cousins) with liver glycogen storage disease, type VI, were studied. In one the liver phosphorylase activity was low; in the other it was normal. However, leukocyte phosphorylase activity was low in the patient in whom liver phosphorylase activity was normal. Through the study of leukocyte enzymes we found that this patient has the sex-linked type of glycogen storage disease characterized by a low phosphorylase kinase activity. We conclude that in such cases the study of leukocyte enzymes provides more reliable results than that of liver enzymes.
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