6-磷酸葡萄糖酸内酯酶缺乏症，一种遗传性红细胞酶缺乏症：与葡萄糖-6-磷酸脱氢酶缺乏症的可能相互作用。
6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: possible interaction with glucose-6-phosphate dehydrogenase deficiency.
作者信息
Beutler E, Kuhl W, Gelbart T
出版信息
Proc Natl Acad Sci U S A. 1985 Jun;82(11):3876-8. doi: 10.1073/pnas.82.11.3876.
Abstract
Partial deficiency of 6-phosphogluconolactonase (EC 3.1.1.31) of the erythrocytes was discovered as an autosomal dominant disorder. Hemolytic anemia occurred in an individual who had inherited both the gene for 6-phosphogluconolactonase deficiency and that for deficiency of a nonhemolytic variant of glucose-6-phosphate dehydrogenase (EC 1.1.1.49). It is proposed that the interaction of this hereditary erythrocyte abnormality with glucose-6-phosphate dehydrogenase deficiency may explain hemolysis in some other patients who have inherited polymorphic variants of glucose-6-phosphate dehydrogenase.
摘要
红细胞6-磷酸葡糖酸内酯酶（EC 3.1.1.31）部分缺乏被发现是一种常染色体显性疾病。一名个体同时遗传了6-磷酸葡糖酸内酯酶缺乏基因和葡萄糖-6-磷酸脱氢酶（EC 1.1.1.49）非溶血型变体缺乏基因，该个体发生了溶血性贫血。有人提出，这种遗传性红细胞异常与葡萄糖-6-磷酸脱氢酶缺乏之间的相互作用，可能解释了其他一些遗传了葡萄糖-6-磷酸脱氢酶多态变体的患者的溶血现象。
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