Phenylketonuria (PKU) is an autosomal recessive inherited disorder of phenylalanine metabolism caused by deficiency of the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. Untreated, PKU results in elevated phenylalanine levels in blood and brain, which cause severe intellectual disability, epilepsy and behavioural problems. For this first revision of the European PKU Guidelines previous recommendations were re-evaluated and updated according to new research findings. Twenty-one professionals were divided across four working groups and supported by a coordinator and chair. In addition to an update of the previous 70 recommendations, 20 new topics were included, resulting in a total of 87 statements in this first revision of the guidelines. Research publications were reviewed up until September 2022. Evidence was graded as high, moderate, low, very low or expert opinion and the recommendations were graded conditional or strong according to GRADE methodology. All recommendations were discussed during 14 plenary online or in person meetings. Recommendations were accepted if more than 75 % of the professionals were in agreement. When recommendations were not amended, the text reported in the European guidelines of 2017 remains valid.

苯丙酮尿症（PKU）是一种常染色体隐性遗传的苯丙氨酸代谢紊乱症，是由于缺乏将苯丙氨酸转化为酪氨酸的苯丙氨酸羟化酶所致。如果不加以治疗，PKU会导致血液和大脑中苯丙氨酸含量升高，从而引起严重的智力障碍、癫痫和行为问题。为了对《欧洲PKU指南》进行首次修订，我们根据新的研究成果对之前的建议进行了重新评估和更新。21名专业人员分成四个工作组，并由一名协调员和一名主席提供支持。除了对之前的70项建议进行更新外，还纳入了20个新主题，从而使指南的首次修订版共包含87项声明。对截至2022年9月的研究出版物进行了审查。根据GRADE方法，对证据进行了高、中、低、极低或专家意见分级，并对建议进行了有条件或强分级。所有建议均在14次在线或面对面全体会议上进行了讨论。如果75%以上的专业人员意见一致，则建议被接受。在未对建议进行修订的情况下，2017年欧洲指南中报告的文本仍然有效。