新型治疗丙酮酸激酶缺乏症药物—Mitapivat
Journal of Shandong Medical College（2023）
Abstract
丙酮酸激酶(Pyruvate kinase,PK)缺乏症是一种常见的常染色体隐性遗传的红细胞酶相关疾病,可引起遗传性非球形红细胞溶血性贫血,其严重程度表现不一,部分患儿在新生儿期即发生高胆红素血症,随着年龄增长,贫血程度可减轻[1].
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