A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.
Gene
; 874: 147483, 2023 Jul 20.
Article
em En
| MEDLINE
| ID: mdl-37196891
ABSTRACT
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 thorough biochemical and molecular analysis including amino acid profile, DNA sequencing of genes of interest and RNA splice site evaluation, to reveal a yet unknown damaging variant of the SLC25A13 gene.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Citrulinemia
/
Transportadores de Ânions Orgânicos
Tipo de estudo:
Etiology_studies
Limite:
Female
/
Humans
/
Infant
/
Newborn
Idioma:
En
Revista:
Gene
Ano de publicação:
2023
Tipo de documento:
Article