BMJ. 1993 Jan 9;306(6870):115-9. doi: 10.1136/bmj.306.6870.115.
Efficient neonatal screening for phenylketonuria and the availability of complex diets for lifelong use have virtually eliminated severe mental handicap from the disease. Nevertheless, there remains a high risk of fetal damage in offspring of women with the disease, and the possibility that the diets themselves may be harmful cannot be excluded. Search for a preventive treatment for the disease has been greatly aided by advances in molecular genetics. For example, in mice modified liver cells have been implanted, which have not only corrected the phenylalanine defect but have remained healthy for the normal life span of the animal. Overall, however, prevention and treatment have not progressed as quickly as was hoped, and research and development must be pursued vigorously to take account of contemporary perceptions of the disorder.
苯丙酮尿症的高效新生儿筛查以及可供终身使用的复合饮食的出现，实际上已消除了该疾病导致的严重智力障碍。然而，患该疾病的女性的后代仍有很高的胎儿受损风险，而且不能排除饮食本身可能有害的可能性。分子遗传学的进展极大地推动了对该疾病预防性治疗方法的探索。例如，在小鼠身上已植入经过改造的肝细胞，这些细胞不仅纠正了苯丙氨酸缺陷，而且在动物的正常寿命期内都保持健康。然而总体而言，预防和治疗的进展并未达到预期速度，必须大力开展研发工作，以跟上当代对该病症的认识。
