甲基丙二酸血症变异型和杂合子中白细胞的甲基丙二酰辅酶A变位酶活性
Methylmalonyl-CoA mutase activity of leukocytes in variants and heterozygotes of methylmalonic acidemia.
作者信息
Narisawa K, Saito T, Hisa S, Suzuki H, Hayasaka K
出版信息
Tohoku J Exp Med. 1977 Sep;123(1):1-8. doi: 10.1620/tjem.123.1.
PMID:21471
Abstract
An assay method for the methylmalonyl-CoA mutase of leukocytes obtained from 3 ml of blood was established. The enzyme activity which was measured with or without the in vitro addition of 5'-deoxyadenosylcobalamin was found to be of value for the diagnosis of two variants of methylmalonic acidemia (vitamin B12 responsive and unresponsive), and also for the detection of heterozygotes with the vitamin B12 unresponsive type.
摘要
建立了一种从3毫升血液中获取白细胞的甲基丙二酰辅酶A变位酶的检测方法。发现无论体外是否添加5'-脱氧腺苷钴胺素所测得的酶活性，对于甲基丙二酸血症的两种变异型（维生素B12反应型和无反应型）的诊断以及维生素B12无反应型杂合子的检测都具有价值。
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