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Article

A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.

Gene - 20 Jul 2023

Sachs Nimrod, Wechsberg Oded, Landau Yuval E, Krause Irit, Elgali Ifat Israel, Darawshe Malak, Shomron Noam, Lidzbarsky Gabriel, Orenstein Naama

Abstract excerpt

Citrin deficiency is an autosomal recessive disorder associated with SLC25A13 gene pathogenic variants, with more than a hundred known at present. It manifests in neonates as failure to thrive and acute liver insufficiency. We herein describe a case of a 4-week-old infant who presented with insufficient weight gain and liver failure accompanied by hyperammonemia. She was diagnosed with Citrin deficiency after a...

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Identifiers

PMID: 37196891
DOI: 10.1016/j.gene.2023.147483

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A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.PMID 37196891Read ↗

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SLC25A13 gene analysis in citrin deficiency: sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China.Semantic proximity Read ↗

[Newborn screening, clinical features and genetic analysis for Citrin deficiency in Henan province].Semantic proximity Read ↗

[Analysis of SLC25A13 gene mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency].Semantic proximity Read ↗

Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance.Semantic proximity Read ↗

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