Kaplan J C, Leroux A, Beauvais P
C R Seances Soc Biol Fil. 1979;173(2):368-79.
Twenty-four personal cases of recessive congenital methemoglobinemia (RCM) due to cytochrome b5 reductase deficiency are analysed. They can be divided into two categories: 1) RCM type I, in which cyanosis is the single clinical symptom; 2) RCM type II in which cyanosis is associated with severe mental retardation and bilateral athetosis. The enzyme deficiency is restricted to the red cell soluble cytochrome b5 reductase in RCM type I, whereas in the type II form the enzyme defect is generalized to all tissues, involving both the soluble and the microsomal forms of cytochrome b5 reductase. Different mutations occurring at the same locus might account for this heterogeneity. However the mechanism of brain damage in case of generalized deficiency of cytochrome b5 reductase is still unknown.
对24例因细胞色素b5还原酶缺乏所致的隐性先天性高铁血红蛋白血症（RCM）的个人病例进行了分析。它们可分为两类：1）I型RCM，其中发绀是唯一的临床症状；2）II型RCM，其中发绀与严重智力迟钝和双侧手足徐动症相关。酶缺乏在I型RCM中仅限于红细胞可溶性细胞色素b5还原酶，而在II型中，酶缺陷普遍存在于所有组织，涉及细胞色素b5还原酶的可溶性和微粒体形式。同一基因座发生的不同突变可能解释了这种异质性。然而，细胞色素b5还原酶普遍缺乏情况下脑损伤的机制仍不清楚。
