Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency.
Normotriglyceridemic abetalipoproteinemia in infancy: an isolated apolipoprotein B-100 deficiency.
复制标题
婴儿期甘油三酯正常的无β脂蛋白血症：一种孤立的载脂蛋白 B-100 缺乏症。
DOI：
10.1542/peds.75.3.541
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发表时间：
1985
期刊：
影响因子：
8
通讯作者：
M. Kawade
中科院分区：
文献类型：
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作者：
Y. Takashima;T. Kodama;H. Iida;M. Kawamura;H. Aburatani;H. Itakura;Y. Akanuma;F. Takaku;M. Kawade
因一名1岁日本婴儿出现营养不良、血浆脂质水平严重降低和棘红细胞增多症，对其血浆脂蛋白进行了研究。血浆脂蛋白分析显示，低密度脂蛋白缺乏；然而，在血浆中发现了低水平的富含甘油三酯的脂蛋白。在十二烷基硫酸钠（SDS） - 聚丙烯酰胺凝胶电泳中，当婴儿6个月大时，在密度小于1.006 g/mL的脂蛋白组分中检测到载脂蛋白B - 48以及与载脂蛋白B - 100对应的一条微弱条带。1年后更清晰地检测到载脂蛋白B - 48，但十二烷基硫酸钠凝胶电泳中对应载脂蛋白B - 100的条带消失了。密度小于1.006 g/mL组分中的载脂蛋白B - 48含量约为0.05 - 0.3 mg/dL。患者的脂蛋白主要由高密度脂蛋白组成。这些结果表明，该患者的疾病是由载脂蛋白B - 100缺乏引起的。
The plasma lipoproteins of a 1-year-old Japanese infant were studied because of malnutrition, severe decrease in plasma lipid level, and acanthocytosis. Plasma lipoprotein analysis revealed that low-density lipoproteins were deficient; however, low levels of triglyceride-rich lipoproteins were found in the plasma. On sodium dodecylsulfate (SDS) polyacrylamide gel electrophoresis, apoprotein B-48 and a faint band corresponding to apoprotein B-100 were detected in the lipoprotein fraction of density less than 1.006 g/mL when the infant was 6 months old. Apoprotein B-48 was more clearly detected after 1 year, but the band corresponding to apoprotein B-100 on the sodium dodecylsulfate gel electrophoresis had disappeared. The apoprotein B-48 content of the fraction with density less than 1.006 g/mL was about 0.05 to 0.3 mg/dL. The patient's lipoproteins consisted mainly of high-density lipoproteins. These results suggest that the disorder in this patient is caused by apoprotein B-100 deficiency.