Takeshita M, Matsuki T, Tanishima K, Yubisui T, Yoneyama Y, Kurata K, Hara N, Igarashi T
J Med Genet. 1982 Jun;19(3):204-9. doi: 10.1136/jmg.19.3.204.
NADH-diaphorase and cytochrome b5 reductase activities of platelets and leucocytes, as well as erythrocytes, were found to be deficient in a patient with hereditary methaemoglobinaemia associated with moderate mental retardation and non-progressive neurological disturbance, in which hyperactive reflexes and involuntary movements were notable. In another methaemoglobinaemic patient with no mental or neurological abnormalities, these enzyme activities were defective in erythrocytes but normal in platelets and leucocytes. The first case was a generalised cytochrome b5 reductase deficiency with non-progressive encephalopathy. It is suggested that the detection of cytochrome b5 reductase activity in platelets, in addition to that in leucocytes, is useful for the assessment of a generalised enzyme defect. Genetical involvement of the present cases is discussed in association with the diaphorase gene loci in humans.
在一名患有遗传性高铁血红蛋白血症并伴有中度智力发育迟缓及非进行性神经功能障碍（其中活跃的反射和不自主运动较为显著）的患者中，发现其血小板、白细胞以及红细胞中的NADH - 黄递酶和细胞色素b5还原酶活性均存在缺陷。在另一名无精神或神经异常的高铁血红蛋白血症患者中，这些酶活性在红细胞中存在缺陷，但在血小板和白细胞中正常。首例病例为伴有非进行性脑病的全身性细胞色素b5还原酶缺乏症。研究表明，除了检测白细胞中的细胞色素b5还原酶活性外，检测血小板中的该酶活性对于评估全身性酶缺陷也很有用。结合人类黄递酶基因位点对本病例的遗传因素进行了讨论。
