Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children

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 <12 g/l, after a digestive rest of five days. this mutation is the second case discovered in the world and the first case in children. the identification of the molecular etiology of these dyslipidemias explain the wide variety of phenotypes observed, some of which are accessible to targeted therapies.