Activities of Glycogen Synthetase and UDPG-pyrophosphorylase in Muscle of a Patient with a New Type of Muscle Glycogenosis caused by Phosphofructokinase Deficiency

Abstract

GLYCOGEN storage diseases (glycogen diseases) resulting from congenital abnormalities in glycogen metabolism, accompanied either by accumulated glycogen of normal or abnormal structure, have been classified into six types according to the specific defects in the enzymes related to glycogen metabolism^1,2. This aetiological elucidation has become possible because of remarkable progress in biochemical analysis. Two other glycogen diseases have been reported recently by two groups of investigators; one^3,4 is glycogen synthetase deficiency disease in liver; the other, described in a short communication by us⁵, is a muscle glycogenosis caused by a deficiency of muscle phosphofructokinase. A brief report describing the clinical features of our patients has also been published⁶.