GSD Type I Presentation Highlights from Dr. Monika Williams
The Muenzer MPS Research & Treatment Center recently hosted a journal club presentation by Dr. Monika Williams, Assistant Professor of Pediatrics in Genetics & Metabolism at UNC, highlighting key insights into Glycogen Storage Disease Type I (GSD I).
⬇ Download Presentation (PDF)
GSD I is a rare metabolic condition caused by genetic variants that impair the body’s ability to regulate glucose. It typically presents in infancy and can lead to complications affecting the liver, kidneys, and metabolic health.
Current management strategies, including cornstarch therapy and continuous feeding approaches, help maintain blood glucose levels but do not address the underlying cause of disease.
Dr. Williams also highlighted ongoing research and emerging therapies, including gene therapy approaches and targeted treatments aimed at improving long-term outcomes.
The presentation emphasized the importance of multidisciplinary care and continued research to support individuals living with GSD.