José Angel Camacho, MD

Dr. José Angel Camacho is a medical and biochemical geneticist who cares for children and adults with inborn errors of metabolism (genetic disorders that disrupt the body's ability to break down and use nutrients in food), such as urea cycle disorders (which interfere with the liver's ability to remove ammonia from the bloodstream), mitochondrial disease, organic acidemias, lysosomal storage disorders and fatty acid oxidation disorders. Camacho treats patients identified through the California Newborn Screening Program (a public health service that checks all babies for certain genetic disorders), working with a specialized team that includes a social worker, dietitian, nurse and licensed genetic counselor. Other conditions Camacho treats include neurological, neurodevelopmental and autism spectrum disorders, as well as cardiovascular disease.

In research, Camacho focuses on urea cycle disorders and the role of the mitochondrial carrier family (proteins that transport molecules across membranes in mitochondria, which are energy-producing structures in cells). Camacho's team has identified key molecules involved in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (a particularly rare urea cycle disorder), seeking to understand how the disease progresses and ultimately develop new treatments. As a metabolic geneticist, Camacho wants to better grasp how the accumulation of toxic products from nutrient conversion affects the brain and body.

After earning a medical degree at the Universidad Central del Caribe in Puerto Rico, Camacho completed a residency in pediatrics at the University of Missouri. These were followed by a fellowship in pediatric cardiology at Cohen Children's Medical Center and a fellowship in biochemical genetics at Johns Hopkins University.