Reference Centre for Inborn Errors of Metabolism, INSERM U954, Department of Pediatrics, Children's Hospital of Nancy, Allée du Morvan, Vandoeuvre les Nancy 54500, France.
Mol Genet Metab. 2010;99 Suppl 1:S79-85. doi: 10.1016/j.ymgme.2009.09.015.
Control of blood phenylalanine (Phe) levels throughout the life of a person diagnosed with phenylketonuria (PKU) is the biochemical management strategy necessary to provide the best potential for optimal outcome. Psychosocial support mechanisms comprise the other aspects of PKU management that are necessary to overcome the hurdles of living with this chronic disease and to adhere to the rigors of its management. Additional psychosocial support may be required, in light of increasing evidence that control of blood Phe levels in PKU can still lead to subtle but measurable cognitive function deficits as well as a predisposition to certain psychiatric symptoms and disorders. An all encompassing PKU management strategy that goes beyond simply treating blood Phe levels can empower and enable people born with PKU to achieve similar life goals as those born without PKU. This review looks at PKU management strategies that go beyond treating Phe levels, specifically (1) the roles psychologists play in managing PKU from infancy through adulthood and how they help PKU families and caregivers deal with the disease and the burden of its management; (2) understanding the challenges of transitioning into adulthood as an individual with PKU and addressing unmet needs in this population; (3) how non-traditional practices can be utilized in PKU. The objective is to emphasize that management of PKU goes well beyond addressing the biochemical nature of this disease in order to achieve optimal patient outcomes.
控制血苯丙氨酸（Phe）水平在患有苯丙酮尿症（PKU）的人的一生是提供最佳结果的最佳潜力的生化管理策略。社会心理支持机制构成了 PKU 管理的其他方面，这些方面对于克服患有这种慢性疾病的障碍和坚持其管理的严格性是必要的。鉴于越来越多的证据表明，PKU 中血 Phe 水平的控制仍然会导致微妙但可测量的认知功能缺陷，以及某些精神症状和障碍的倾向，可能需要额外的社会心理支持。超越简单地治疗血 Phe 水平的全面 PKU 管理策略可以赋予并使患有 PKU 的人能够实现与未患有 PKU 的人相似的生活目标。这篇综述探讨了超越治疗 Phe 水平的 PKU 管理策略，具体包括：（1）心理学家在婴儿期至成年期管理 PKU 中的作用，以及他们如何帮助 PKU 家庭和照顾者应对疾病和管理负担；（2）了解作为 PKU 患者进入成年期的挑战，并解决该人群的未满足需求；（3）如何在 PKU 中利用非传统实践。目的是强调，PKU 的管理不仅仅是解决这种疾病的生化性质，以实现最佳的患者结果。
