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Article

Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.

Journal of inherited metabolic disease - 1 Nov 2024

Kido Jun, Makris Georgios, Santra Saikat, Häberle Johannes

Abstract excerpt

Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in SLC25A13. The clinical manifestation is very variable and comprises three types: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD: OMIM 605814), post-NICCD including failure to thrive and dyslipidemia caused by citrin deficiency, and adult-onset type II citrullinemia (CTLN2: OMIM...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38503330
DOI: 10.1002/jimd.12722
PMCID: PMC11586594

Provenance

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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