U.S., July 9 -- ClinicalTrials.gov registry received information related to the study (NCT07055269) titled 'Liver Metabolic Functions in Patients With Citrin Deficiency and Healthy Subjects' on June 25.
Brief Summary: Citrin is an aspartate-glutamate transporter in the liver that facilitates the urea cycle pathway for ammonia detoxification via ureagenesis. It is also thought to be involved in liver energy metabolism as a component of the malate-aspartate shuttle. The clinical presentation in patients supports the hypothesis that liver glycolytic, gluconeogenic and lipogenic functions are compromised in citrin deficiency, but none of the key hepatic pathway fluxes have been measured in patients to date. This is the first study that will ex...