MUSCLE EXPRESSION OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY IN DIFFERENT VARIANTS

Muscle expression of G6PD deficiency has been investigated in Mediterr anean, Seattle-like and A-variants. G6PD activity was detected in samp les obtained from biopsies on the quadriceps muscle of seven males and one female. The type of genetic variant was determined by molecular a nalysis of DNA, extracted from blood samples. All variants showed the enzyme defect in muscle. A statistically significant relationship was found in the activity of G6PD between erythrocytes and muscle of the m ale subjects (r=0.968; p=0.00008). The equation for the best fit line was: Y=0.390X+0.198. The results suggest that, for a given variant, th e extent of the enzyme defect in muscle may be determined, using this equation, from the G6PD activity of erythrocytes.