Two Japanese Kindreds of Familial Hypercholesterolemia Including Homozygous Cases. A Report of Cases, and Studies on Serum-Lipoproteins and Enzymes
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Two Japanese kindreds of familial hypercholesterolemia, each including a case of homozygote, are presented. The rate of cholesterol synthesis as well as 3-hydroxy-3-methylglutarylcoenzyme A (HMG-CoA) reductase activity of cultured fibroblasts obtained fromthe homozygotes were 8-20 times as much as the control. This elevated activity of HMG-CoA reductasedid not change when lipoproteins were removed from culture medium, suggestingthat the homozygote's cells are resistant to the regulation by lipoproteins. A low-fatdiet lowered the serum concentration of cholesterol of a homozygote from 1000 down to 673mg/dl, whereas the supplementation with vegetable oil, 30g per day, brought it up to 875mg/dl. Intravenous alimentation reduced the serum cholesterol to a level much lower than the one obtained by the dietary therapy. The serum concentration of cholesterol in heterozygotes ranged between 304-351 mg/dl.
- 社団法人 日本内科学会の論文
社団法人 日本内科学会 | 論文
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