A pediatric case of citrin deficiency presenting with recurrent hypertriglyceridemic pancreatitis-a case report

Citrin deficiency (CD) is a rare autosomal recessive metabolic disorder caused by pathogenic variants in the SLC25A13 gene, which encodes the mitochondrial aspartate-glutamate carrier 2, also known as citrin. We describe an 11-year-old Chinese boy presenting with recurrent acute pancreatitis secondary to severe hypertriglyceridemia during the FTTDCD/post-NICCD stage of citrin deficiency. The patient was relatively thin (his height and weight were at the 10th percentile on the growth curve for Chinese children), had a strong preference for soy products and an aversion to carbohydrates. Laboratory tests at presentation revealed severe hypertriglyceridemia (28.96 mmol/L), with a previously documented peak of 30.35 mmol/L. Abdominal computed tomography showed diffuse pancreatic enlargement and peripancreatic inflammatory changes, which, together with compatible abdominal pain, supported the diagnosis of acute pancreatitis. Genetic sequencing identified compound heterozygous pathogenic mutations in the SLC25A13 gene (exon 9: c.852_855delTATG; intron 6: c.615+5G > A). Plasma ammonia and citrulline levels were within normal limits. All of these findings supported a diagnosis of failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) in the post-NICCD phase. Management involved plasma exchange, a high-protein/high-fat/low-carbohydrate diet, and medium-chain triglyceride (MCT) supplementation, leading to clinical improvement. However, poor dietary adherence during follow-up resulted in two readmissions for recurrent pancreatitis. This case highlights that citrin deficiency should be considered in children with recurrent acute pancreatitis associated with severe hypertriglyceridemia, especially when accompanied by carbohydrate aversion and unusual dietary preferences, even in the absence of hyperammonemia or hypercitrullinemia.