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Article

Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.

Trends in endocrinology and metabolism: TEM - 1 Aug 2022

Tavoulari Sotiria, Lacabanne Denis, Thangaratnarajah Chancievan, Kunji Edmund R S

Abstract excerpt

Citrin deficiency is a pan-ethnic and highly prevalent mitochondrial disease with three different stages: neonatal intrahepatic cholestasis (NICCD), a relatively mild adaptation stage, and type II citrullinemia in adulthood (CTLN2). The cause is the absence or dysfunction of the calcium-regulated mitochondrial aspartate/glutamate carrier 2 (AGC2/SLC25A13), also called citrin, which imports glutamate into the...

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Identifiers

PMID: 35725541
DOI: 10.1016/j.tem.2022.05.002
PMCID: PMC7614230

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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