公开(公告)号：US20100316623A1

公开(公告)日：2010-12-16

申请号：US12766193

申请日：2010-04-23

申请人： Andrew TURNER ,  Homayoun SADEGHI

发明人： Andrew TURNER ,  Homayoun SADEGHI

IPC分类号： A61K38/44 ,  C12N9/02 ,  C07H21/04 ,  C12N15/63 ,  C12N5/10

CPC分类号： C12N9/0071 ,  A61K38/00 ,  C07K2319/00

摘要： The present invention provides Phenylalanine Hydroxylase (PAH) fusion proteins and pharmaceutical compositions comprising the same, as well as encoding polynucleotides and vectors, and methods for treating hyperphenylalaninemia, including PKU, by enzyme replacement therapy. The fusion proteins have phenylalanine hydroxylase activity when administered: and have an increased half-life or persistence in circulation, as compared to unfused counterparts. The PAH fusion proteins are suitable for enzyme replacement therapy in PKU patients by converting phenylalanine in the circulation to tyrosine, thereby controlling phenylalanine levels.

摘要翻译： 本发明提供苯丙氨酸羟化酶（PAH）融合蛋白和包含其的药物组合物，以及编码多核苷酸和载体，以及通过酶替代疗法治疗高苯丙氨酸血症（包括PKU）的方法。 融合蛋白在施用时具有苯丙氨酸羟化酶活性，与未融合的对应物相比，具有增加的半衰期或循环持久性。 通过将循环中的苯丙氨酸转化为酪氨酸，PAH融合蛋白适用于PKU患者的酶替代治疗，从而控制苯丙氨酸水平。