Jacobasch G
Z Gesamte Inn Med. 1978 May 1;33(9):276-82.
Enzymopathies are described concerning the enzymes of the oxidative pentose phosphate pathway including the glutathion system, of the majority of glycolytic enzymes as well as of the ATPase, adenylate kinase and pyrimidine-5'-nucleotidase. The distribution and the frequency of the enzymopathies differ strongly in the various regions of the world. Glucose-6-phosphate dehydrogenase and pyruvate kinase show the highest frequency. The detected polymorphism of the pathological enzyme variants is one of the reasons for the fact that no correlation between the decrease of the catalytic activity and the severity of the anaemias has been found. For the identification of risk-groups more precise methods are necessary. Till now the detailed relationships between enzymopathy and non-spherocytic haemolytic anaemias are not clarified. Furthermore the molecular mechanism of the instability of pathological enzyme variants is not yet clear.
已对涉及氧化戊糖磷酸途径（包括谷胱甘肽系统）、大多数糖酵解酶以及ATP酶、腺苷酸激酶和嘧啶-5'-核苷酸酶的酶病进行了描述。酶病在世界不同地区的分布和频率差异很大。葡萄糖-6-磷酸脱氢酶和丙酮酸激酶的频率最高。所检测到的病理性酶变体的多态性是未发现催化活性降低与贫血严重程度之间存在相关性的原因之一。为了识别风险群体，需要更精确的方法。到目前为止，酶病与非球形细胞溶血性贫血之间的详细关系尚未阐明。此外，病理性酶变体不稳定性的分子机制尚不清楚。
