Phenylketonuria (PKU) is an autosomal recessive metabolic disorder characterized by an inability to metabolize the amino acid phenylalanine (Phe). If left untreated, an accumulation of Phe results in neurodevelopmental, neurological and psychological impairments. Advancements in detection and treatment of PKU have improved outcomes and life expectancy for these patients, emphasizing the need for life-long, specialized care. Due to the paucity of adult-focused PKU clinics, patients who are well into adulthood are still being treated in pediatric centers. This retrospective study evaluates the perceived expectations, benefits and challenges of 50 adult PKU patients (mean age 31.3 ± 10.4 years) transitioning from a pediatric to adult care setting using a transition questionnaire administered at the first clinic visit at the adult PKU care center. Patients reported a lack of access to adult resources and adult-specific PKU educational material in their pediatric PKU clinic. In contrast, the established relationships with the pediatric health care team and familiarity with treatment plans were aspects of pediatric care that patients enjoyed. The results from this study will contribute to the optimization of adult PKU patient care, establishment of strategies for transitioning adults with PKU and other metabolic disorders from pediatric to adult care, and support the need to establish adult-only PKU care facilities.

苯丙酮尿症（PKU）是一种常染色体隐性代谢疾病，其特征在于无法代谢氨基酸苯丙氨酸（Phe）。如果不加以治疗，Phe的积累会导致神经发育，神经和心理障碍。PKU的检测和治疗方面的进步提高了这些患者的结局和预期寿命，强调了对终生专业护理的需求。由于缺乏以成人为中心的北大诊所，成年后仍在儿科中心接受治疗。这项回顾性研究评估了50名成人PKU患者（平均年龄31.3±10.4岁）从儿科到成人护理环境的预期期望，收益和挑战，方法是在成人PKU护理中心首次就诊时使用过渡问卷。患者报告他们的儿科PKU诊所缺少成人资源和成人专用的PKU教育材料。相反，与儿科医疗团队建立的关系以及对治疗计划的熟悉是患者享有的儿科护理的方面。这项研究的结果将有助于优化成人PKU患者护理，建立将PKU和其他代谢性疾病成人从儿科过渡到成人护理的策略，并支持建立仅成人PKU护理设施的需求。与儿科医疗团队建立的关系以及对治疗计划的熟悉是患者享受儿科护理的方面。这项研究的结果将有助于优化成人PKU患者护理，建立将PKU和其他代谢性疾病成人从儿科过渡到成人护理的策略，并支持建立仅成人PKU护理设施的需求。与儿科医疗团队建立的关系以及对治疗计划的熟悉是患者享受儿科护理的方面。这项研究的结果将有助于优化成人PKU患者护理，建立将PKU和其他代谢性疾病成人从儿科过渡到成人护理的策略，并支持建立仅成人PKU护理设施的需求。