Two cases of unusual Type I glycogenosis

Two patients with apparent clinical manifestations of glycogen storage disease were described. The curves obtained upon glucose and adrenalin tolerance tests were indicative of glycogen storage disease Type I. Liver biopsies showed the increased glycogen concentration; however, the activities of the enzymes involved in glycogen metabolism, including glucose-6-phosphatase activity, were within normal limits or even slightly enhanced. On the basis of the biochemical data, Type Ib glycogenosis was diagnosed. The analytical ultracentrifugation studies of serum lipoproteins of those patients showed that concentration of very low density lipoproteins was considerably increased.