• Title of article

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

  • Author/Authors

    Idrissi Slitine, Nadia El Department - Mohammed VI University Hospital and Research an‎d Team for Childhood - Health and Development - Marrakech School of Medicine - Cadi Ayyad University, Marrakech, Morocco , Bennaoui, Fatiha Department - Mohammed VI University Hospital and Research an‎d Team for Childhood - Health and Development - Marrakech School of Medicine - Cadi Ayyad University, Marrakech, Morocco , Louachama, Ouidad Department - Mohammed VI University Hospital and Research an‎d Team for Childhood - Health and Development - Marrakech School of Medicine - Cadi Ayyad University, Marrakech, Morocco , Habibi, Leila Department - Mohammed VI University Hospital and Research an‎d Team for Childhood - Health and Development - Marrakech School of Medicine - Cadi Ayyad University, Marrakech, Morocco , Fdil, Naima Biochemistry laboratory - Arrazi hospital - Mohammed VI University Hospital, Marrakesh, Morocco , Tali, Abdelali Biochemistry Department - School of Medicine - CADI AYYAD University, Morocco , Chabaa, Laila Biochemistry laboratory - Arrazi hospital - Mohammed VI University Hospital - Marrakesh, Morocco an‎d Biochemistry Department - School of medicine ,CADI AYYAD University, Morocco , Mrabih Rabou Maoulainine, Fadl Department - Mohammed VI University Hospital and Research an‎d Team for Childhood - Health and Development - Marrakech School of Medicine - Cadi Ayyad University, Marrakech, Morocco

  • Pages
    4
  • From page
    5839
  • To page
    5842
  • 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
    Pancreatitis , Mutation , LPL gene , hyperchylomicronemia , Children
  • Journal title
    International Journal of Pediatrics
  • Serial Year
    2017
  • Record number

    2521808

    • Link To Document
    https://search.isc.ac/dl/search/defaultta.aspx?DTC=10&DC=2521808