A Rare Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in the United States

We describe the case of a 9-week-old female infant of Ashkenazi Jewish descent who presented with failure to thrive, vomiting, and persistent jaundice. Laboratory tests showed positive urine reducing substances as well as an abnormal amino acid profile, with increased arginine, threonine, methionine, tyrosine, lysine, and grossly elevated citrulline levels. Liver biopsy demonstrated the presence of cholestatic hepatitis with mixed steatosis and siderosis. Based on the aforementioned findings, a preliminary diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency was made. This diagnosis was later confirmed by molecular testing. Neonatal intrahepatic cholestasis caused by citrin deficiency is typically seen in infants of East Asian descent, and to the best of our knowledge, this is the first reported case in an American infant of Ashkenazi Jewish descent.