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Citrin deficiency – pathogenesis, clinical and biochemical manifestation, diagnostics, treatment

Postepy biochemii - 30 Jun 2021

Lipiński Patryk, Ciara Elżbieta, Ehmke Vel Emczyńska-Seliga Ewa, Jankowska Irena

Abstract excerpt

Citrin deficiency is an inherited metabolic disease caused by biallelic pathogenic variants in the SLC25A13 gene encoding the carrier protein called citrin. There are observed three characteristic clinical and biochemical age-dependent phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency, failure to thrive and dyslipidemia caused by citrin deficiency and adult-onset citrullinemia type 2. The...

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PMID: 34378890
DOI: 10.18388/pb.2021_381

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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