Jaffé E R
Blood Cells. 1986;12(1):81-90.
Recessively inherited NADH-cytochrome B5 reductase deficiency, when present in the homozygous or doubly heterozygous form, is manifested by two different clinical presentations, depending on the nature and cellular distribution of the mutant enzyme. The observations supporting a clinical and biochemical classification of enzymopenic hereditary methemoglobinemia are summarized. Type I, with deficiency demonstrable only in the erythrocytes, presents as uncomplicated, benign methemoglobinemia. Type II, generalized cytochrome B5 deficiency demonstrable in all of the tissues that have been examined, is accompanied by severe, lethal, progressive neurological disability, in addition to methemoglobinemia. Type III deficiency is limited to hematopoietic cells and resembles Type I clinically. Type IV, also clinically like Type I, is associated with deficiency of the cofactor, cytochrome B5. Except for Type IV, the different types appear to be the result of mutations in paired alleles of a gene on chromosome 22 that affect the catalytic activity or stability of the cytochrome B5 reductase.
隐性遗传的NADH - 细胞色素B5还原酶缺乏症，当以纯合子或双重杂合子形式存在时，根据突变酶的性质和细胞分布，会表现出两种不同的临床表现。支持酶缺乏性遗传性高铁血红蛋白血症临床和生化分类的观察结果进行了总结。I型仅在红细胞中可检测到缺乏，表现为单纯性、良性高铁血红蛋白血症。II型在所有已检查的组织中均显示出全身性细胞色素B5缺乏，除高铁血红蛋白血症外，还伴有严重、致命、进行性神经功能障碍。III型缺乏仅限于造血细胞，临床上类似于I型。IV型临床上也与I型相似，与辅助因子细胞色素B5缺乏有关。除IV型外，不同类型似乎是22号染色体上一个基因的配对等位基因突变的结果，这些突变影响细胞色素B5还原酶的催化活性或稳定性。
