PARTIAL DEFICIENCY OF PHOSPHOGLYCERATE MUTASE WITH DIABETIC POLYNEUROPATHY - THE FIRST JAPANESE PATIENT

We report here findings in a 51-year-old Japanese man with non-insulin -dependent diabetes mellitus who complained of exercise-induced cramps , Muscle biopsy showed scattered regenerating fibers, small angular fi bers and increased PAS positive particles, Electron microscopic examin ation revealed an abnormal accumulation of glycogen particles in subsa rcolenmmal areas and between myofibrils while chemical studies showed an increased glycogen concentration and decreased phosphoglycerate mut ase (PGAM), 46.9% of the normal mean value. Thus, partial PGAM deficie ncy, insulin resistance and mild diabetic sensory-motor polyneuropathy can induce severe cramps.