Citrin deficiency mimicking mitochondrial depletion syndrome

Citrin deficiency mimicking mitochondrial depletion syndrome

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...

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Bibliographic Details
Main Authors: S. C. Grünert, A. Schumann, P. Freisinger, S. Rosenbaum-Fabian, M. Schmidts, A. J. Mueller, S. Beck-Wödl, T. B. Haack, H. Schneider, H. Fuchs, U. Teufel, G. Gramer, L. Hannibal, U. Spiekerkoetter
Format: Article
Language:English
Published: BMC 2020-11-01
Series:BMC Pediatrics
Subjects:
Citrin deficiency
Neonatal cholestasis
Hypoglycemia
Newborn screening
Urea cycle defect
SLC25A13
Online Access:http://link.springer.com/article/10.1186/s12887-020-02409-x

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