Newborn screening and early dietary treatment for phenylketonuria is a major medical success story. More people are screened for phenylketonuria than for any other inherited condition. Since 1970, the outlook for affected individuals has been transformed from severe intellectual disability to fully normal personal, professional, and social lives. Like in many other rare diseases, high quality studies of treatment and outcomes in phenylketonuria are scarce. This scarcity is reflected in the recent key European guidelines for the diagnosis and management of phenylketonuria published in The Lancet Diabetes & Endocrinology.

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欧洲苯丙酮尿症指南的问题

苯丙酮尿症的新生儿筛查和早期饮食治疗是一个重大的医学成功故事。筛查苯丙酮尿症的人数超过了其他任何遗传性疾病的人数。自1970年以来，受灾个人的前景已从严重的智力残疾转变为完全正常的个人，职业和社交生活。像其他许多罕见疾病一样，苯丙酮尿症的治疗和预后方面的高质量研究也很少。在《柳叶刀糖尿病与内分泌学》上发表的最新欧洲关键诊断和治疗苯丙酮尿症指南中反映了这种稀缺性。