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Article

Pathogenesis and Management of Citrin Deficiency.

Internal medicine (Tokyo, Japan) - 15 Jul 2024

Hayasaka Kiyoshi

Abstract excerpt

Citrin deficiency (CD) is a hereditary disorder caused by SLC25A13 mutations that manifests as neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive and dyslipidemia caused by CD (FTTDCD), and adult-onset type 2 citrullinemia (CTLN2). Citrin, an aspartate-glutamate carrier primarily expressed in the liver, is a component of the malate-aspartate shuttle, which is essential for glycolysis....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37952953
DOI: 10.2169/internalmedicine.2595-23
PMCID: PMC11309867

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