Pyruvate kinase deficiency (PKD)

丙酮酸激酶缺陷

英文解释

Pyruvate kinase deficiency (PKD) is an autosomal-recessive enzyme defect of the glycolytic pathway that causes congenital nonspherocytic hemolytic anemia.

中文解释

丙酮酸激酶缺陷 (PKD) 是糖酵解途径的常染色体隐性酶缺陷，可引起先天性非球形溶血性贫血。

参考文献

[1]. Grace RF, et al. Management of pyruvate kinase deficiency in children and adults. Blood. 2020 Sep 10;136(11):1241-1249.