Citrin deficiency mimicking mitochondrial depletion syndrome

• Main Authors: S. C. Grünert (Author), A. Schumann (Author), P. Freisinger (Author), S. Rosenbaum-Fabian (Author), M. Schmidts (Author), A. J. Mueller (Author), S. Beck-Wödl (Author), T. B. Haack (Author), H. Schneider (Author), H. Fuchs (Author), U. Teufel (Author), G. Gramer (Author), L. Hannibal (Author), U. Spiekerkoetter (Author)
• Format: Book
• Published: BMC, 2020-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Neonatal intrahepatic cholestasis caused by citrin deficiency (CD) is a rare inborn error of metabolism due to variants in the SLC25A13 gene encoding the calcium-binding protein citrin. Citrin is an aspartate-glutamate carrier located within the inner mitochondrial membrane. Case...