Citrin deficiency is an autosomal recessive disorder caused by pathogenic variants in the SLC25A13 gene. It presents in neonates as failure to thrive and acute liver insufficiency. A case of Citrin deficiency in a 4-week-old infant was diagnosed through comprehensive biochemical and molecular analysis, revealing a previously unknown damaging variant of the SLC25A13 gene.
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.
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