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Article

Citrin deficiency mimicking mitochondrial depletion syndrome.

BMC pediatrics - 11 Nov 2020

Grünert S C, Schumann A, Freisinger P, Rosenbaum-Fabian S, Schmidts M, Mueller A J, Beck-Wödl S, Haack T B, Schneider H, Fuchs H, Teufel U, Gramer G, Hannibal L, Spiekerkoetter U

Abstract excerpt

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 PRESENTATION: We report on two siblings of Romanian-Vietnamese ancestry with citrin deficiency. Patient 1 is a female who...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33176737
DOI: 10.1186/s12887-020-02409-x
PMCID: PMC7659096

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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