Neonatal Intensive Care Department, Mohammed VI University Hospital and Research AND Team for Childhood, Health and Development, Marrakech School of Medicine, Cadi Ayyad University, Marrakech, Morocco.
Biochemistry laboratory, Arrazi hospital, Mohammed VI University Hospital, Marrakesh, Morocco.
Biochemistry Department, School of Medicine, CADI AYYAD University, Morocco.
Biochemistry laboratory, Arrazi hospital, Mohammed VI University Hospital, Marrakesh, Morocco AND Biochemistry Department, School of medicine ,CADI AYYAD University, Morocco.
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