Liver Metabolic Functions in Patients With Citrin Deficiency and Healthy Subjects

All participants will be given heavy water (2H2O, deuterium-labelled) and \[U-13C6\]-fructose orally, each followed by the collection of one blood plasma sample. Additional biochemical and clinical parameters including liver fat content by MRI, liver fibrosis and cirrhosis by ultrasound imaging and plasma biochemical profiles will be analyzed.

urea and urea cycle metabolites and their enrichment after oral administration of a stable isotope tracer 15NH4Cl will be measured to examine the liver's ability to detoxify ammonia.