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

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 (2017) Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children. International Journal of Pediatrics, 5 (10). pp. 5839-5842.

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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

Item Type: Article
Subjects: WS Pediatrics
QY Clinical Pathology
Divisions: Journals > International J Pediatrics
Depositing User: IJP IJP
Date Deposited: 04 Sep 2017 16:47
Last Modified: 19 Sep 2017 19:07
URI: http://eprints.mums.ac.ir/id/eprint/477

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