The Metabolic & Mitochondrial Medicine Program of Rady Children’s Specialists of San Diego is the only clinical program devoted to the care of children with metabolic and mitochondrial diseases serving San Diego, Imperial and Riverside counties. Patients are referred to our program from throughout the United States and Canada, as well as from overseas.

We are known for our expertise in the field, as our physicians were the first to identify some of these rare diseases or the enzyme defect that causes them.

Along with caring for patients, our physicians run the metabolic disease screening component of the Newborn Screening Program, a statewide program of the California Department of Public Health. Rady Children’s is one of the program’s designated service centers. The goal of the screening is to prevent long-term health effects of genetic diseases through early detection and intervention.

Research is also a major focus of the program, with an emphasis on evaluating the most promising treatments. Current clinical trials include the assessment of enzyme replacement therapy for Gaucher disease, Hurler disease, Fabry disease and Pompe disease.

 

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