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

David WeinsteinDivision


Academic Title

Director, Glycogen Storage Disease Program
Associate Program Director for Research

Contact Information

352-273-5823 (phone)
352-265-0857 (fax)


Dental Tower, D2-14E


Glycogen Storage Disease Program

Research Overview

The Glycogen Storage Disease (GSD) 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 control, and new therapies for the disease are actively being tested.

The GSD Program at the University of Florida is the only member of International Study of Glycogen Storage Disease from the United States. The ISGSD is a collaborative research effort with GSD centers from 14 counties, and projects are being performed on GSD type Ia, type Ib, type IIIa, and IIIb.


Following his graduation from Trinity College (CT) and Harvard Medical School, Dr. Weinstein completed a residency, chief residency, and fellowship in pediatric endocrinology at Children’s Hospital Boston. He subsequently obtained a Masters in clinical investigation from Harvard and MIT, and became Director of the Glycogen Storage Disease Program at Children’s Hospital Boston. In 2005, Dr. Weinstein moved to the University of Florida where he directs the Glycogen Storage Disease Program and is a tenured Associate Professor. Dr. Weinstein follows the largest cohort of hepatic GSD patients in the world, and he has published over 25 articles and 16 textbook chapters on this topic. He is a former Jan Albrecht Award winner from the American Association for the Study of Liver Diseases, and he served 2 terms on the Board of Directors for the Association for Glycogen Storage Disease.

Key Publications

Additional publications can be found in PubMed.

Dr. Weinstein has published over 25 articles and 16 textbook chapters related to glycogen storage disease and carbohydrate disorders. A full list of publications is available in Pubmed, but some notable publications are the following:

  1. Davis MK and Weinstein DA. Liver Transplantation in Children with Glycogen Storage Disease: Controversies and Evaluation of the Risk/Benefit of this Procedure. Pediatric Transplantation, 2008; 12: 137-45.
  2. Weinstein DA, Correia CE, Saunders AC, and Wolfsdorf JI. Hepatic Glycogen Synthase Deficiency: An Under-Recognized Cause of Ketotic Hypoglycemia. Molecular Genetics and Metabolism, 2006; 87: 284 – 288.
  3. Weinstein DA, Roy CN, Fleming MD, Loda MF, Wolfsdorf JI, and Andrews NC. Inappropriate Expression of Hepcidin is Associated with Iron Refractory Anemia: Implications for the Anemia of Chronic Disease. Blood 2002; 100: 3776 – 81.
  4. Weinstein DA and Wolfsdorf JI. Effect of Continuous Glucose Therapy with Uncooked Cornstarch on the Long-term Clinical Course of Type 1a Glycogen Storage Disease. European Journal of Pediatrics, 2002; 161: (Supp 1), S35-39.
  5. Weinstein DA, Somers MJG, and Wolfsdorf JI. Decreased Urinary Citrate Excretion in Type 1a Glycogen Storage Disease Journal of Pediatrics 2001; 138:378-82.