Phosphogluconate Dehydrogenase (PGD)

Brewer and Dern (1964) reported deficiency of 6-phosphogluconate dehydrogenase (6PGD), the second dehydrogenase in the pentose phosphate shunt, in 10 members of 4 generations of an American black family. They concluded that the inheritance is autosomal dominant, all 6PGD-deficient persons observed being heterozygotes. However, no male-to-male transmission was observed; indeed, no offspring of affected males were tested. Against X-linkage is the fact that the average enzyme level in 3 6PGD-deficient males was somewhat higher than that in seven 6PGD-deficient females. The opposite would be expected of an X-linked trait. The authors commented on the autosomal control of an enzyme that is closely related metabolically to G6PD, an enzyme determined by an X-linked gene.