The Metabolic Genetics Clinic at USF Health provides comprehensive, specialized care for pediatric and adult patients with inherited metabolic disorders. We evaluate infants identified through newborn screening, as well as individuals of any age with known or suspected metabolic conditions. Our services include advanced diagnostic evaluation, genetic counseling, individualized dietary management when indicated, and longitudinal monitoring—delivered by experts in biochemical genetics and rare metabolic diseases.

Our program is distinguished by a highly specialized, multidisciplinary team within metabolic genetics, including a board-certified biochemical geneticist, nurse practitioners, certified genetic counselors, and specialized metabolic dietitians. This integrated model allows us to provide seamless, lifelong care across the continuum from childhood through adulthood. Patients are referred to our program from across Florida and beyond for specialized expertise in complex metabolic conditions.

Our team also includes a board-certified clinical geneticist with training in internal medicine who leads the care of patients with lysosomal storage disorders. In collaboration with a genetic counselor who also serves as a study coordinator, they have developed specialized, disease-focused clinics designed to provide comprehensive and coordinated care for this patient population.

USF Health is recognized for clinical excellence and leadership in the field of metabolic genetics. Our faculty actively contribute to advancing standards of care through participation in national and international scientific meetings, leadership in professional organizations, and involvement in advisory boards. Our program is also a leader in clinical research, with active clinical trials in a range of rare metabolic conditions, including phenylketonuria (PKU), fatty acid oxidation disorders, lysosomal storage disorders, hypophosphatasia, and organic acidemias. Our work has contributed to the development of FDA-approved therapies, including treatments that represent the first or only option for certain rare diseases.