Lipoprotein Lipase Deficiency in an Infant

被引：0

作者：

Nampoothiri, Sheela ^{[1
]}

Radhakrishnan, Natasha ^{[2
]}

Schwentek, Andrea ^{[3
]}

Hoffmann, Michael Marcus ^{[1
]}

机构：

[1] Amrita Inst Med Sci & Res Ctr, Dept Pediat Genet, Cochin 682041, Kerala, India

[2] Amrita Inst Med Sci & Res Ctr, Dept Ophthalmol, Cochin 682041, Kerala, India

[3] Univ Med Ctr, Div Clin Chem, D-79106 Freiburg, Germany

来源：

INDIAN PEDIATRICS | 2011年 / 48卷 / 10期

关键词：

Hypertriglyceridemia; Lipoprotein lipase deficiency; Lipemia retinalis; Medium chain triglyceride oil; Mutation analysis; SEVERE HYPERTRIGLYCERIDEMIA; FAMILIAL CHYLOMICRONEMIA; MUTATIONS;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Patients with isolated hypertriglyceridemia usually present with recurrent abdominal pain, pancreatitis, eruptive xanthomas, lipemia retinalis and hepatosplenomegaly. We describe the diagnosis and treatment of an infant with severe hypertriglyceridemia. The child was found to be heterozygous for two novel mutations in the lipoprotein lipase gene.

引用

页码：805 / 806

页数：2

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