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由先天性酶缺乏导致的高甘油血症引起的“假性高甘油三酯血症”

'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.

作者信息

Goussault Y, Turpin E, Neel D, Dreux C, Chanu B, Bakir R, Rouffy J

出版信息

Clin Chim Acta. 1982 Aug 18;123(3):269-74. doi: 10.1016/0009-8981(82)90171-1.

Abstract

A 76-year-old man was found to have a false hypertriglyceridemia due to a 40-fold increased glycerolemia. This metabolic change was due to a deficiency in glycerol kinase (ATP:glycerol phosphotransferase, EC 2.7.1.30) activity in the cells of this patient as shown by incubation of his white blood cells with [14 C]glycerol. Several chromatographic analyses and quantitative assays were performed on plasma and urine of this patient and of his relatives. The small number of this family's members did not allow to specify the mode of transmission of this genetic trait.

摘要

一名76岁男性因甘油血症增加40倍而被发现患有假性高甘油三酯血症。这种代谢变化是由于该患者细胞中甘油激酶(ATP:甘油磷酸转移酶,EC 2.7.1.30)活性缺乏所致,这通过将他的白细胞与[14C]甘油孵育得以证明。对该患者及其亲属的血浆和尿液进行了多项色谱分析和定量测定。该家族成员数量较少,无法明确这种遗传特征的传播方式。

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