HEREDITARY DIAPHORASE DEFICIENCY AND METHEMOGLOBINEMIA.
HEREDITARY DIAPHORASE DEFICIENCY AND METHEMOGLOBINEMIA.
复制标题
遗传性心肌黄酶缺乏症和高铁血红蛋白血症。
作者：
M. Cawein;C. Behlen;E. J. Lappat;J. Cohn
先天性紫绀由于异常量的高铁血红蛋白最初报告在本世纪初。1，2 1932年Hitzenberger 3首次提出这是一种遗传性代谢疾病。吉布森4在1948年将特发性高铁血红蛋白血症确定为由于先天性代谢缺陷引起的疾病。他证明了正常红细胞中高铁血红蛋白的减少是通过磷酸丙糖和乳酸的氧化发生的，先天性高铁血红蛋白血症患者缺乏辅酶因子I。斯科特，5在1960年的一项研究中爱斯基摩家庭与先天性高铁血红蛋白血症，证明了遗传缺乏活性的红细胞黄递酶，其作用是减少高铁血红蛋白通过DPNH系统。本文报告一个先天性高铁血红蛋白血症家系，其红细胞黄递酶有类似的遗传缺陷。材料与方法本家系共189个已知个体，
Congenital cyanosis due to an abnormal amount of methemoglobin was initially reported early in this century. 1,2 It was first suggested by Hitzenberger 3 in 1932 that this was an inherited metabolic disease. Gibson 4 in 1948 identified idiopathic methemoglobinemia as a disease due to an inborn error of metabolism. He demonstrated that methemoglobin reduction in normal erythrocytes took place through oxidation of triose phosphate and lactate and that there was deficiency in coenzyme factor I in patients with congenital methemoglobinemia. Scott, 5 in 1960 in a study of Eskimo families with congenital methemoglobinemia, demonstrated the hereditary absence of activity of the erythrocyte enzyme diaphorase, which acts to reduce methemoglobin through the DPNH system. It is the purpose of this study to report a family with congenital methemoglobinemia who have a similar hereditary deficiency in erythrocyte diaphorase. Materials and Methods The family under study consisted of 189 known individuals both