Research Areas

One main focus of my research program is to gain a greater understanding of chronic liver disease in individuals with urea cycle disorders. As an investigator in the Urea Cycle Disorders Consortium (UCDC) of the Rare Diseases Clinical Research Network, we used data from the UCDC Longitudinal Study of Urea Cycle Disorders to investigate liver disease in urea cycle disorders. Through this work, we demonstrated an increased prevalence of chronic hepatocellular injury in two distal urea cycle disorders (argininosuccinate lyase deficiency and arginase deficiency) compared to disorders impacting enzymes that are more proximal in the cycle. To follow-up this work, we are performing a more comprehensive assessment of liver disease using serum biomarkers and novel imaging techniques in individuals with urea cycle disorders.