Inherited quantitative variations of human phosphogluconate dehydrogenase

Summary Two families with erythrocyte phosphogluconate dehydrogenase (PGD) deficiency were studied. In one family the deficiency was partial, and affected individuals had about half the usual levels of enzyme in both red and white cells. The deficiency appeared to be determined by a structural gene PGDO, allelic with other PGD genes known to determine electrophoretic character. The evidence suggests that, if indeed the PGDO allele does give rise to the formation of a subunit, this subunit is incapable of combining with other subunits to produce the dimeric PGD enzyme.