Diaphorase Activity and Variants in Normal Adults and Newborns
Diaphorase Activity and Variants in Normal Adults and Newborns
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正常成人和新生儿的心肌黄酶活性和变异
DOI：
10.1111/j.1365-2141.1972.tb07076.x
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发表时间：
1972
影响因子：
6.5
通讯作者：
Foo Kon Fah
中科院分区：
文献类型：
--
作者：
L. L. Eng;M. Loo;Foo Kon Fah
概括。对马来西亚三个主要种族的 126 名正常健康成年人和 556 名新生儿进行了红细胞 NADH 依赖性高铁血红蛋白还原酶（心肌黄酶）活性的评估。成人的平均酶活性为 3.34 单位/mg Hb (SD ± 0.63)，新生儿的平均酶活性为 1.75 u/mg Hb (SD ± 0.48)。两种平均值之间的差异具有统计学上的高度显着性。印度人，无论是成人还是婴儿，平均酶活性最低。出生体重为 2.7 公斤或以上的新生儿组的平均活动量显着高于出生体重较低的组。 16 名新生儿的酶活性低于 1 u/mg Hb。其中两人各有一位父母的酶水平也非常低。另外三人的父母均具有正常的酶活性。新生儿的正常下限似乎与遗传性高铁血红蛋白还原酶缺乏症患者的正常下限重叠。一名酶水平极低的新生儿患有高铁血红蛋白血症，但由于父母无法参与研究，因此无法证明其遗传性质。对 108 名成人和 527 名新生儿进行心肌黄酶电泳变异检查，发现少数中国人和印度人存在两种不同且不寻常的表型。家庭研究表明，它们是由基因决定的。
Summary. Red cell NADH‐dependent methaemoglobin reductase (diaphorase) activity was estimated in 126 normal healthy adults and 556 newborns of the three major racial groups in Malaysia. The mean enzyme activity in adults was 3.34 units/mg Hb (SD ± 0.63) and in newborns 1.75 u/mg Hb (SD ± 0.48). The difference between the two means is statistically highly significant. Indians, both adults and infants had the lowest mean enzyme activity. Mean activity in a group of newborns whose birth weights were 2.7 kg or more was significantly higher than in a group with lower birth weights. Sixteen newborns had enzyme activity of less than 1 u/mg Hb. Two of them each had one parent whose enzyme level was also very low. Both parents of three others had normal enzyme activity. The lower limit of normal in newborns seemed to overlap with that found in subjects with hereditary methaemoglobin reductase deficiency. One newborn with an extremely low enzyme level had methaemoglobinaemia, but its genetic nature could not be proved because the parents were not available for study. Examination of 108 adults and 527 newborns for diaphorase electrophoretic variants revealed two different and unusual phenotypes in a few Chinese and Indians. Family studies showed that they are genetically determined.