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

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

  • By

  • Ruyi Ye

  • Puhong Zhang

  • Yong Gu

  • Gang Feng

  • Yue Qu

  • Hongchuan Zhang

  • Wei Wei

  • Lizhu Huang

  • June 8, 2026

  • 0 min

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  • 1

    Citrin deficiency is a rare metabolic disorder caused by mutations in the SLC25A13 gene, leading to severe hypertriglyceridemia and recurrent pancreatitis.

  • 2

    An 11-year-old boy with citrin deficiency presented with recurrent acute pancreatitis and triglyceride levels reaching 28.96 mmol/L, indicating severe hypertriglyceridemia.

  • 3

    The patient's dietary preferences included a strong aversion to carbohydrates and a preference for soy products, contributing to his clinical condition.

  • 4

    Management included plasma exchange and a specialized diet, but poor adherence led to multiple readmissions for recurrent pancreatitis.

  • 5

    This case emphasizes the need to consider citrin deficiency in children with recurrent pancreatitis and severe hypertriglyceridemia, even without hyperammonemia.

Original Source(s)

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

  • by Ruyi Ye, Puhong Zhang, Yong Gu, Gang Feng, Yue Qu, Hongchuan Zhang, Wei Wei, Lizhu Huang

  • June 8, 2026

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