Organic acidemias, such as methylmalonic acidemia (MMA) and propionic acidemia (PA), are inherited disorders that interfere with the body’s ability to properly use certain enzymes to process carbohydrates, amino acids, and fatty acid oxidation. This defect in the metabolic pathway puts those affected at risk of a life-threatening acute metabolic decompensation events, which can include lethargy, anorexia, vomiting, dehydration, hypotonia, and potentially coma and death.
Currently, there are no specific treatments approved for MMA or PA. Some of the departments research is focused on documenting and describing the natural course of the disorder over the life-time, to improve quality of life and testing, while some of the departments translational research is investigating possible treatments for these disorders, through gene therapy.
Jerry Vockley, MD, PhD