Gustavo H. B. Maegawa, M.D., Ph.D.


Genetics and Metabolism

Academic Title

Associate Professor, Department of Pediatrics and Neuroscience (IDP)

Contact Information

University of Florida
Department of Pediatrics/Genetics & Metabolism
Pediatrics Chair’s Office – R1-118D
Laboratory – Academic Research Bldg. – R1-152/R1-178
1600 SW Archer Rd.
Gainesville, FL 32608

352-294-5559 (Phone)
352-294-8262 (Main Lab Phone)
352-273-5270 (Lab 2 Phone)
352-627-4565 (Fax)



Maegawa Laboratory


Research Overview

For the past years, my research laboratory has devoted to develop therapeutic strategies for lysosomal storage diseases (LSDs), inborn organelle diseases caused by mutation in genes encoding mostly enzymes that are essential for lysosomes to function as units of compartmental recycling and degradation. From a clinical standpoint, patients suffering from LSDs present involvement of multiple organs and systems, predominantly the central nervous system. From a cellular and molecular perspective, a lysosomal enzyme deficiency results in the accumulation of primary and secondary natural substrates (Walkley 2009; Maxfield 2014). The lysosomal enlargement and dysfunction disturb several molecular pathways ultimately resulting in cell death. In a recent neonatal screening pilot study, the incidence of these conditions showed to be just over 1/2,000 (Mechtler, Stary et al. 2012). Only 8 amongst the nearly 60 LSDs have specific-FDA approved therapeutic agents. Several approaches have been developed over the years to treat LSDs (Fig.1). Currently, the enzyme replacement agents that are efficacious and safe, however unable to cross the blood-brain barrier and therefore restricted to treat non-neurological symptoms.

Based on the molecular pathogenesis of LSDs, the main focus of my research is to develop novel therapies that efficaciously alter the course of the progressive neurodegeneration typically observed in affected patients. Since my early clinical training until present, I have become interested in bringing novel therapeutic approaches to patients we diagnose, manage and follow with numerous LSDs. In the clinical arena, in contrast to most pediatric and adult common diseases, we have very few options in our therapeutic arsenal, which is often based on supportive care consisting of treatment of acute and chronic complications that are so common in LSDs and other inborn errors of metabolism. From a basic science perspective, the identification and characterization of molecular probes for specific targets, may not only generate drug candidates, but also potentially unravel novel molecular pathways involved in enzyme folding, translocation and maturation, ultimately improve our understanding of cellular protein homeostasis.


Current Lab Members

Priya Shil, B.Sc.
Bachelor of Science in Microbiology – 2017
University of Florida, Gainesville, FL

Vivian Godoy, B.Sc.
Bachelor of Science in Biology – 2017
University of North Florida Jacksonville, FL


Pediatrics Specialty Clinic for Lysosomal and Leukodystrophy Disorders

The Division of Genetics and Metabolism in the Department of Pediatrics has been following and providing care to patients impacted by inherited white matter diseases for several years. These diseases include but are not limited to the following: X-linked adrenoleukodystrophy (XALD), Metachromatic Leukodystrophy (MLD), Krabbe disease (GLD), Vanishing White Matter Disease, Hypomyelinating Disorders, Pelizaeus-Merzbacher disease (PMD) and others.

Dr. Maegawa, is a clinical-scientist who specializes in lysosomal storage disorders and leukodystrophies. He is uniquely positioned to incorporate his knowledge and expertise in cutting-edge, evidence based research in his diagnosis and management of patients suffering with diverse types of leukodystrophies. Since Dr. Maegawa joined the team, there has been an increase in the number of patients being referred to the clinic with suspected or diagnosed lysosomal storage disorder diseases as well as unknown or diagnosed leukodystrophies. With the recent inclusion of XALD as part of routine newborn screening in the state of Florida, it is expected that the number of patients referred to our program will increase.

UF Health Shands Children’s Hospital

UF Health Shands Children’s Hospital


Specialty Clinic for Lysosomal Storage Diseases and Leukodystrophies

Specialty Clinic for Lysosomal Storage Diseases and Leukodystrophies

Key Publications

  1. Maegawa GHB, Tropak M, Buttner JD, Rigat B, Fuller M, Pandit D, Tang L, Kornhaber GJ, Hamuro Y, Clarke JTR, Mahuran DJ. Identification and characterization of ambroxol as an enzyme-enhancement agent for Gaucher disease. J Biol Chem 2009 Aug 28;284(35):23502-16.
  2. Maegawa GHB, Banwell B, Blaser S, Hawkins C, Arckerley C, Hayes J, Tlopak M, Sorge G, Clarke Substrate reduction therapy in juvenile GM2 gangliosidosis. Mol Genet Metab. 2009 Sep-Oct;98(1-2):215-24
  3. Maegawa GHB, Giersbergen PV, Yang S, Banwell B, Morgan CP, Tifft C, Clarke Pharmacokinetics, tolerability and safety of miglustat as treatment of GM2 gangliosidosis. Mol Genet Metab 2009 Aug;97(4):284-91.
  4. Tropak, MB, Kornhaber, GJ, Rigat,BA, Maegawa GHB, Buttner J, Blanchard JE, Murphy C, Tuske SJ, Coales SJ, Hamuro Y, Brown E, Mahuran DJ. Identification of pharmacological chaperones for Gaucher disease nd characterization of their effects on b-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry. ChemBioChem 2008 (9), 2650-2662.
  5. Kornhaber GJ, Tropak MB, Maegawa GHB, Tuske SJ, Coales SJ, Mahuran DJ, Hamuro Y. Isofagomine Induced Stabilization of Glucocerebrosidase” ChemBioChem 2008 (9), 2643-2649.
  6. Maegawa GHB, Poplawski N, Andresen BS, Olpin SE, Nie G, Clarke JTR, Teshima I. Interstitial Deletion of 1p22.2p31.1 and Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Developmental Delay. Am J Med Genet (Part A) 2008 Jun 15;146A(12):1581-6.
  7. Maegawa GH, Tropak M, Butner J, Stockley T, Kok F, Clarke JTR, Mahuran DJ. Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem. 2007, 82(12): 9150-9161.
  8. Maegawa GHB, Stockley T, Tropak M, Kok F, Giugliani R, Mahuran D, Clarke JTR. The natural history of juvenile or subacute GM2 gangliosidosis: 21 unreported cases and literature review of 134 cases. Pediatrics 2006, Oct 2; e1550-1562.