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Article

Citrin Deficiency: Clinical and Nutritional Features.

Nutrients - 12 May 2023

Komatsu Michiharu, Tanaka Naoki, Kimura Takefumi, Yazaki Masahide

Abstract excerpt

SLC25A13 gene mutations are responsible for diseases related to citrin deficiency (CD), such as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset type II citrullinemia (CTLN2). From childhood to adulthood, CD patients are apparently healthy due to metabolic compensation with peculiar dietary habits-disliking high-carbohydrate foods and liking fat and protein-rich foods. Carbohydrate...

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Source

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Identifiers

PMID: 37242166
DOI: 10.3390/nu15102284
PMCID: PMC10224054

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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