Lysosomal Storage Disease Program

Our Mission

The UF Lysosomal Storage Disease Program is committed to offering a comprehensive and personalized clinical care for patients suffering from lysosomal storage diseases (LSDs). LSDs are genetic disorders that are caused by specific enzyme deficiencies resulting in multi-systemic disease, presenting with neurological, renal, cardiovascular, gastrointestinal, musculoskeletal, ophthalmological and respiratory problems (Fig.1). The LSD program provides diagnosis, management, treatment and monitoring of several different treatments available for patients affected by LSD including enzyme replacement therapy, small molecule therapy, hematopoietic stem cell therapy and others.

UF clinical LSD program unites outstanding physicians from multiple specialties into a cooperative team devoted to offering excellence in patient care. Gustavo Maegawa M.D., Ph.D. coordinates the multi-disciplinary group from primary specialists in their respective sub specialties. Our team has experience and resources to treat a wide range of complications commonly seen in these inherited metabolic diseases.

Based on the UF tradition on integrating clinical and basic research, teaching and patient care, the LSD program is also involved in several clinical studies including clinical trials with the most advances therapeutic agents. The unique characteristics of the program are an integrated approach to patients suffering from multi-systemic LSDs following UF principles of the pursuit of excellence and innovation in patient care.

The UF Lysosomal Storage Disease Program is directed by Gustavo H.B. Maegawa MD, Ph.D., physician-scientist from the Division of Genetics/Metabolism in the Department of Pediatrics, College of Medicine, University of Florida. Dr. Maegawa also conducts basic research in his laboratory aiming to understand molecular mechanisms of LSD and develop new therapeutic approaches. Dr. Maegawa coordinates the necessary multi-disciplinary and personalized for affected patients and their families. Dr. Maegawa also collaborates with LSD centers throughout the United States and around the world to bring advances from basic research to clinical care. Dr. Maegawa participates in the elaboration of several health-care guidelines for several LSDs. The UF LSD program is a multidisciplinary team, which includes specialists from UF from Cardiology, Endocrinology, Hematology/Oncology, Neurology, Nephrology, Neurosurgery, Nutrition, Orthopedics, Otolaryngology, Organ Transplant, Pain Management, Pulmonology, Radiology, Surgery, and Urology.


For referrals

Please contact:
Susan Artwich
Div. of Genetics and Metabolism
Department of Pediatrics
University of Florida

P.O. Box 100296 UFHSC
Gainesville, Florida 32610

Phone: (352) 294-5050
Fax: (352) 294-8058

UF LSD Program Location

UF Health Pediatrics
Gerold L. Schiebler CMS Center
1699 SW 16th Avenue – Building A
Gainesville, FL 32608