Mitochondrial fatty acid oxidation (FAO) is a pathway of energy generation and is active during times of fasting or physiologic stress. Deficiencies present with catalysis induced symptoms including hypoglycemia, hyperammonemia, myopathy, rhabdomyolysis and cardiomyopathy. Rapid treatment of both groups of disorders is critical to reducing long term sequelae. Many can be identified pre-symptomatically through newborn screening with tandem mass spectrometry of dried blood spots.
Research in the Vockley Lab focuses on understanding the understanding cellular dysfunction caused by these disorders, studying their effects in model organisms, and development of new therapies to treat them. Clinical research translates these efforts into testing new therapies on patients.
Research in the Goetzman Lab examines the role of protein modification in the function of FAO enzymes.
Principal Investigator
Jerry Vockley, MD, PhD