Looking beyond severe hypertriglyceridemia when diagnosing adult-onset citrullinemia type II

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 <i>SLC25A13</i> variants is essential for definitive diagnosis of CTLN2.In CTLN2, dietary management with a low-carbohydrate, high-protein, low-fat represents the cornerstone, with fibrates serving as adjunctive lipid-lowering therapy.