%0 Journal Article %T Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children %J International Journal of Pediatrics %I Mashhad University of Medical Sciences %Z 2345-5047 %A El Idrissi Slitine, Nadia %A Bennaoui, Fatiha %A Louachama, Ouidad %A Habibi, Leila %A Fdil, Naima %A Tali, Abdelali %A Chabaa, Laila %A Maoulainine, Fadl Mrabih Rabou %D 2017 %\ 10/01/2017 %V 5 %N 10 %P 5839-5842 %! Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children %K Children %K hyperchylomicronemia %K LPL gene %K Mutation %K Pancreatitis %R 10.22038/ijp.2017.25461.2163 %X Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineous parents. She was hospitalized for hypertriglyceridemia, complicated by acute pancreatitis; serum was noted to be milky. The genetic study found a mutation of the Lipoprotein Lipase (LPL) gene: homozygous pathogenic variant c.1019-3C > A. She enjoyed good health, developed well and the triglyceride was maintained at a concentration of %U https://ijp.mums.ac.ir/article_9140_fc69dbb6475918ea13f32f64c4656cba.pdf