The Mitochondrial and Metabolic Disease Center (MMDC) at UCSD Medical Center is an international leader in the diagnosis, treatment and research of metabolic disorders. Patients from all over the world seek care from our medical experts.
Although the words mitochondrial disease hold no meaning for most people, each year nearly 3,000 children are born with it; the mortality for the most severe forms in childhood is up to 50 percent per year. Other children born with mitochondrial disease do not show symptoms until adulthood, when they become disabled and die.
We are only now beginning to learn about the devastation and death that results from defective mitochondria -- thread-like structures inside cells that function as power generators, converting the potential energy provided by food into energy that can be used by the body.
Depending on which cells are affected, defects in mitochondrial function have now been linked to many of the most common diseases of aging, including Parkinson’s disease, Alzheimer’s disease, cancer, stroke, diabetes, heart disease, and autoimmune diseases. It is clear that mitochondria are involved because their function is measurably disturbed.
This center unites the three elements necessary for medical progress: diagnosis, treatment and research.
In many facilities around the world, these elements are isolated, with scientists and physicians working toward separate goals. In contrast, physicians and scientists at the MMDC work closely together toward the common goal of developing more effective treatments. Through its extensive research, the center has made significant advancements in understanding mitochondrial and metabolic disease in adults and children.
At the MMDC, patients also have access to clinical trials, which utilize protocols developed together with UCSD’s General Clinical Research Center.
Additionally, the MMDC has a specialized biochemical genetics laboratory where tests for hundreds of metabolic diseases are routinely performed. Using state-of-the art technology, the UCSD Biochemical Genetics Laboratory also screens newborns for a wide range of metabolic diseases. The tests are interpreted by the Center’s medical experts. If metabolic diseases run in your family, or an infant in your family had an unexplained death or died of SIDS (sudden infant death syndrome), you may want to ask your pediatrician for a referral to our center so your newborn can be tested.
To schedule an appointment at the center, please call (619) 543-7800