Waller H D, Benöhr H C
Klin Wochenschr. 1978 May 15;56(10):483-91. doi: 10.1007/BF01492860.
Numerous enzyme defects-deficiency of pyruvate kinase, phosphofructo-kinase, glocosephosphate isomerase, adenylate kinase, 2,3-diphosphoglycerate mutase and glutathione reductase--in red blood cells have been described to be connected with dyserythropoietic or refractory anemias and panmyelopathies of different origin. These enzyme deficiencies also have been demonstrated in red cells of patients with acute leukemia. Most likely the enzyme deficiencies are acquired and are not important for the origin of anemia or bone marrow insufficiency. Partial derepression of fetal genes, qualitative and quantitative perturbations of genetic expression, and posttranslational variations of the enzyme protein by low molecular factors from plasma, erythrocytes or leukemic cells have been discussed as a reason of enzyme deficiency. The decrease of glutathione reductase deficiency is dependent of FAD deficiency.
已描述红细胞中存在多种酶缺陷，如丙酮酸激酶、磷酸果糖激酶、葡萄糖磷酸异构酶、腺苷酸激酶、2,3 -二磷酸甘油酸变位酶和谷胱甘肽还原酶缺乏，这些缺陷与不同起源的异常红细胞生成性或难治性贫血及全骨髓病有关。急性白血病患者的红细胞中也已证实存在这些酶缺陷。很可能这些酶缺陷是后天获得的，对贫血或骨髓功能不全的起源并不重要。胎儿基因的部分去抑制、基因表达的定性和定量扰动以及来自血浆、红细胞或白血病细胞的低分子因子对酶蛋白的翻译后变异已被讨论为酶缺陷的原因。谷胱甘肽还原酶缺乏的降低取决于黄素腺嘌呤二核苷酸（FAD）缺乏。
