Brunzell J D, Miller N E, Alaupovic P, St Hilaire R J, Wang C S, Sarson D L, Bloom S R, Lewis B
J Lipid Res. 1983 Jan;24(1):12-9.
A mother and her son who have lipoprotein phenotype I are described. They differed from subjects with lipoprotein lipase deficiency in that lipoprotein lipase was present in adipose tissue respectively at 30- and 2-fold the levels seen in normal subjects, and from subjects with apoprotein C-II deficiency in that apoprotein C-II was present in their plasma. They appeared to have an inhibitor to lipoprotein lipase activity in their whole plasma that inhibited that activity eluted from adipose tissue with heparin and that activity present in postheparin plasma of normals. The inhibitor was non-dialyzable, heat-stable, sensitive to repeated freezing and thawing, and appeared to be present in the non-lipoprotein fraction of plasma. The presence of chylomicronemia and the plasma inhibitor in the mother and her son, and possibly in her father and grandson, argues against this being inherited as an autosomal recessive abnormality, as are lipoprotein lipase deficiency and apoprotein C-II deficiency.
本文描述了一对患有I型脂蛋白表型的母子。他们与脂蛋白脂肪酶缺乏症患者不同，其脂肪组织中脂蛋白脂肪酶的含量分别是正常受试者的30倍和2倍；他们也与载脂蛋白C-II缺乏症患者不同，其血浆中存在载脂蛋白C-II。他们的全血中似乎有一种脂蛋白脂肪酶活性抑制剂，该抑制剂能抑制从脂肪组织中用肝素洗脱的活性以及正常受试者肝素后血浆中的活性。该抑制剂不可透析、热稳定，对反复冻融敏感，似乎存在于血浆的非脂蛋白部分。母子二人，可能还有她的父亲和孙子，均存在乳糜微粒血症和血浆抑制剂，这表明该病并非像脂蛋白脂肪酶缺乏症和载脂蛋白C-II缺乏症那样作为常染色体隐性异常遗传。
