ArticleEuropean journal of case reports in internal medicine2026
Looking Beyond Severe Hypertriglyceridemia when Diagnosing Adult-Onset Citrullinemia Type II.
Article in European journal of case reports in internal medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Adult-onset citrullinemia type II (CTLN2) is a rare autosomal recessive urea cycle disorder caused by mutations in the solute carrier family 25 member 13 ( Case description: A 30-year-old Vietnamese male with longstanding severe hypertriglyceridemia, first identified at age 13, was referred after an episode of acute pancreatitis at age 28. At presentation, plasma triglyceride levels reached 34.61 mmol/l. Secondary causes were excluded. Genetic testing via next-generation sequencing revealed compound heterozygous Conclusion: CTLN2 should be considered in young adults with persistent, unexplained, and severe hypertriglyceridemia. Dietary modification constitutes the cornerstone of management, with fibrates playing a supportive role. LEARNING POINTS: Persistent, unexplained, and severe hypertriglyceridemia in young adults should prompt consideration of inherited metabolic disorders, including adult-onset citrullinemia type II (CTLN2).Genetic testing to detect compound heterozygous or homozygous
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