Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant

Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant

Background. Citrin deficiency (CD), caused by mutations in the SLC25A13 gene, is a rare autosomal recessive urea cycle disorder with variable clinical presentations depending on age. These include neonatal intrahepatic cholestasis (NICCD), failure to thrive with dyslipidemia, and adult-onset type I...

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Main Authors: Arzu Selamioğlu, Şebnem Kılıç, Ayça Dilruba Aslanger, Meryem Karaca, Mehmet Cihan Balcı, Zehra Oya Uyguner, Gülden Gökçay
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2025-07-01
Series:The Turkish Journal of Pediatrics
Subjects:
citrin deficiency
cholestasis
SLC25A13
citrullinemia type 2
urea cycle disorder
Online Access:https://turkjpediatr.org/article/view/5604
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