@article { author = {El Idrissi Slitine, Nadia and Bennaoui, Fatiha and Louachama, Ouidad and Habibi, Leila and Fdil, Naima and Tali, Abdelali and Chabaa, Laila and Maoulainine, Fadl Mrabih Rabou}, title = {Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children}, journal = {International Journal of Pediatrics}, volume = {5}, number = {10}, pages = {5839-5842}, year = {2017}, publisher = {Mashhad University of Medical Sciences}, issn = {2345-5047}, eissn = {2345-5055}, doi = {10.22038/ijp.2017.25461.2163}, abstract = {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 }, keywords = {Children,hyperchylomicronemia,LPL gene,Mutation,Pancreatitis}, url = {https://ijp.mums.ac.ir/article_9140.html}, eprint = {https://ijp.mums.ac.ir/article_9140_fc69dbb6475918ea13f32f64c4656cba.pdf} }