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

El Idrissi Slitine, Nadia; Bennaoui, Fatiha; Louachama, Ouidad; Habibi, Leila; Fdil, Naima; Tali, Abdelali; Chabaa, Laila; Maoulainine, Fadl Mrabih Rabou

doi:10.22038/ijp.2017.25461.2163

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

Authors

¹ 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.

² Biochemistry laboratory, Arrazi hospital, Mohammed VI University Hospital, Marrakesh, Morocco.

³ Biochemistry Department, School of Medicine, CADI AYYAD University, Morocco.

⁴ Biochemistry laboratory, Arrazi hospital, Mohammed VI University Hospital, Marrakesh, Morocco AND Biochemistry Department, School of medicine ,CADI AYYAD University, Morocco.

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

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