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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 education. Recommendations include initial hospital-based pegvaliase administration, regular monitoring of phenylalanine and tyrosine levels, dietary adjustments, and management of adverse events. A consensus was reached on the need for a digital database to manage treatment plans and enhance communication between healthcare professionals and patients.

Conclusion

The expert panel's consensus highlights the complexity of PKU management and the necessity for a coordinated, patient-centred approach. The recommendations aim to standardise care across Italian centres and provide a framework for integrating pegvaliase therapy into clinical practice, potentially informing international guidelines. Further research is warranted to evaluate the long-term impact of these practices on patient outcomes and quality of life.

SUBMITTER: Scala I 

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

REPOSITORIES: biostudies-literature

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

Scala Iris I   Brodosi Lucia L   Rovelli Valentina V   Noto Davide D   Burlina Alberto A  

Molecular genetics and metabolism reports 20240222


<h4>Objective</h4>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.<h4>Methods</h4>Virtual meetings convened in September 2022, gathering a steering committee (SC) of experts from five Italian centres specialising in PKU. The SC reviewed, and dis  ...[more]

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