A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase.
A five-month-old Japanese boy was found to have marked glycogen accumulation only in the heart. A survey of enzymes revealed normal activities of phosphorylase, cyclic AMP-dependent protein kinase, acid maltase and amylo-1,6-glucosidase. However, the heart had capacity of activating neither rabbit muscle phosphorylase b nor endogenous phosphorylase b, which was converted to active form only when supplemented rabbit muscle phosphorylase kinase. In contrast to the heart, activities of phosphorylase kinase were found within normal levels in other organ tissues so far tested. These findings indicate that the present case of the cardiac glycogenosis is caused by deficiency of cardiac phosphorylase kinase.
D000818:Animals; D004789:Enzyme Activation; D006003:Glycogen / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000201:enzymology*; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000201:enzymology; D009206:Myocardium / Q000201:enzymology*; D010764:Phosphorylase Kinase / Q000172:deficiency* / Q000378:metabolism; D010763:Phosphorylase b / Q000378:metabolism; D011817:Rabbits; D014018:Tissue Distribution
D006003:Glycogen; D010763:Phosphorylase b; D010764:Phosphorylase Kinase