GLUCOGENOSIS

David A. Weinstein, M.D., M.M.Sc.

Division

Endocrinology

Academic Title

Professor

Director, Glycogen Storage Disease Program

Associate Program Director for Research

Contact Information

352-273-5823 (phone)

352-265-0857 (fax)

weinsda@peds.ufl.edu

Office

Dental Tower, D2-14E

Website

Glycogen Storage Disease Program

Research Overview

The glycogen storage disease program at the University of Florida is the largest clinical and research in the world for the hepatic glycogen storage diseases. While patients with glycogen storage disease are now surviving into adulthood, curing the glycogen storage diseases remains the ultimate goal. Working with Dr. Cathryn Mah and the Powell Gene Therapy Program, Dr. Weinstein’s laboratory is working on ways to cure the disease through gene therapy. Studies in the naturally occurring canine model of GSD are actively being performed in collaboration with the College of Veterinary Medicine.

While the research into a cure is occurring, the GSD Program is looking into ways to better treat the glycogen storage diseases. Long-term complications remain common, and Dr. Weinstein’s team has focused on elucidating the cause of these complications. Initially, Dr. Weinstein investigated the cause of renal calcification in GSD Ia. This complication occurred in 67% of patients with GSDIa, and his investigations revealed that hypocitraturia was almost universal in pubertal and adult patients. Citrate supplementation is now being used to prevent kidney stones, and has been added to the consensus guidelines for management of GSD. Anemia also occurs commonly in GSDIa, and iron infusions have been required due to the severity of the problem. Dr. Weinstein’s investigations into the cause of anemia revealed aberrant expression of hepcidin in hepatic adenomas. This was the first report of hepcidin causing pathology in humans, and future studies have supported that hepcidin may be involved in the pathogenesis of anemia of chronic disease. Dr. Weinstein’s team is presently investigating this hypothesis, and presented evidence supporting a role for hepcidin in inflammatory bowel disease. Dr. Weinstein’s lab continues to investigate complications in GSD I including cardiovascular disease, hepatocellular carcinoma, and hepatic adenomas. His team is also validating new technology aimed at improving metabolic

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