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首页> 外文期刊>Canadian Journal of Physiology and Pharmacology >Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review.
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Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review.

机译：与脂蛋白脂肪酶缺乏症相关的新型LPL突变：两个病例报告和文献综述。

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摘要

Lipoprotein lipase (LPL) is a key enzyme involved with hydrolysis and removal of triglycerides from plasma. LPL deficiency is a rare condition with an estimated prevalence of 1 in 106. It is characterized biochemically by elevated triglycerides and lowered HDL in the plasma and clinically by a constellation of signs and symptoms during childhood including failure to thrive, lipemia retinalis, eruptive xanthomas, hepatosplenomegaly, and acute pancreatitis. Nearly 100 mutations in the LPL gene have been associated with LPL deficiency. Here we report 2 unrelated pedigrees with LPL deficiency from 2 novel disease-causing LPL mutations: a Gly159Glu missense mutation in exon 5 and a 4-bp ACGG deletion at the 3' boundary of exon 2. We present molecular findings of these 2 cases and review the biochemical, clinical, and genetic features of LPL deficiency.
机译：脂蛋白脂肪酶（LPL）是涉及水解和从血浆中去除甘油三酸酯的关键酶。 LPL缺乏症是一种罕见病，估计患病率为106分之一。其生化特征是血浆甘油三酯升高和HDL降低，临床上的特征是儿童时期的征兆和症状，包括including壮，视网膜血脂异常，爆发性黄疸，肝脾肿大和急性胰腺炎。 LPL基因中近100个突变与LPL缺乏有关。在这里，我们报告了2个与LPL缺乏相关的血统谱系，来自2个新的致病性LPL突变：第5外显子的Gly159Glu错义突变和第2外显子3'边界的4 bp ACGG缺失。回顾LPL缺乏症的生化，临床和遗传特征。

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