Peer-reviewed
Heterogeneous glycogen storage disease in siblings and favorable response to synthetic androgen administration
A heterogeneous form of glycogen storage disease is described in two siblings. In the male there was marked deficiency in the liver of glucose-6-phosphatase, but no abnormality of muscle glycogen. In the female there was a moderate diminution of glucose-6-phosphatase activity, associated with deficiency of debranching enzyme in liver and muscle (limit dextrinosis). Both subjects presumably share a deficiency of debranching enzyme in the erythrocyte. The father and a third sibling were found to have twice normal levels of erythrocyte glycogen, suggestive of an effect in the heterozygote
Article
The American Journal of Medicine, 33, 1962, 20