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.
Keyphrases
- replacement therapy
- liver failure
- genome wide
- copy number
- weight gain
- genome wide identification
- hepatitis b virus
- amino acid
- dna methylation
- body mass index
- single cell
- birth weight
- randomized controlled trial
- transcription factor
- gene expression
- preterm birth
- intensive care unit
- physical activity
- weight loss
- respiratory failure
- nucleic acid
- mechanical ventilation
- extracorporeal membrane oxygenation