Neonatal cholestasis due to citrin deficiency: diagnostic pitfalls
Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The paper presents a case of Polish NICCD patient presenting with low birth weight, failure to thrive, prolonged cholestatic jaundice with coagulopathy and hypoalbuminemia with normal results of MS/MS newborn screening but with high blood citrulline level observed at 3 months of age. Unreported findings included N-hypoglycosylation and increased serum very-long-chain fatty acids (VLCFA), probably secondary to liver impairment. Final diagnosis was established based on whole-exome sequencing (WES) analysis.
Copyright (c) 2020 Patryk Lipiński, Dorota Jurkiewicz, Elżbieta Ciara, Rafał Płoski, Sabina Więcek, Anna Bogdańska, Teresa Stradomska, Piotr Socha, Dariusz Rokicki, Anna Tylki-Szymańska, Irena Jankowska
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