The present invention relates to the use of specific types of compounds acting as pharmacological chaperones having a stabilizing activity on the phenylalanine hydroxylase (PAH) enzyme for the prophylaxis and/or treatment of hyperphenylalaninemia (HPA) and phenylketonuria (PKU) and diseases, disorders and conditions related thereto. Further, the present invention relates to pharmaceutical compositions containing the compounds according to the present invention as well as to methods of treatment of HPA, in particular, PKU and diseases, disorders and conditions related thereto.
本发明涉及作为对苯丙
氨酸羟化酶(PAH)酶具有稳定活性的药理伴侣的特定类型化合物在预防和/或治疗高苯丙
氨酸血症(HPA)和
苯丙酮尿症(PKU)以及与之相关的疾病、紊乱和病症方面的用途。此外,本发明还涉及含有根据本发明的化合物的药物组合物,以及治疗高苯丙
氨酸血症(HPA),尤其是高苯丙
氨酸尿症(PKU)和与之相关的疾病、失调和病症的方法。