ESPE Abstracts

Background and aims: GPIHBP1 is an accessory protein of lipoprotein lipase (LPL) essential for its functioning. Mutations in the GPIHBP1 gene cause a deficit in the action of LPL, leading to severe hypertriglyceridemia and increased risk for acute pancreatitis.Methods: We describe one patient (three years and seven months old boy) with a novel homozygous Missense mutation in GPIHBP1 gene with cDNA change c.422G>T, Ami...