Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis

A new type of glycogenosis due to deficiency of muscle phosphofructokinase is described. It occurred in three siblings from a single family, who had suffered from intolerance of exercise since childhood. This disease is characterized by the marked accumulation of hexose monophosphates and moderate glycogen deposition in skeletal muscles. Erythrocyte phosphofructokinase is only partially affected in this disease in contrast to the almost complete lack of muscle phosphofructokinase.