Management of patients with phenylketonuria (PKU) under enzyme replacement therapy: An Italian model (expert opinion).

ABSTRACT:

Objective

Phenylketonuria (PKU) is a metabolic disorder necessitating lifelong management to prevent severe neurological impairments. This paper synthesises clinical practices from Italian specialist centres to delineate a unified approach for administering pegvaliase, a novel enzyme replacement therapy for PKU.

Methods

Virtual meetings convened in September 2022, gathering a steering committee (SC) of experts from five Italian centres specialising in PKU. The SC reviewed, and discussed clinical practices, and formulated recommendations for pegvaliase treatment.

Results

The SC outlined a comprehensive treatment roadmap for PKU management with pegvaliase, emphasising the importance of multidisciplinary care teams, patient selection, pre-treatment evaluation, and educat

SUBMITTER: Scala I 

PROVIDER: S-EPMC10899016 | biostudies-literature | 2024 Jun

REPOSITORIES: biostudies-literature