The clinical value of peripheral biogenic amine metabolites in early-treated phenylketonuria
While confirming the negative influence of Phe on PBA in adult ETPKU, mimicking what happens in the brain, we also found an effect of PBA depletion on clinical outcome measures independent of Phe level. This suggests that PBA could serve as new candidate biomarkers for treatment monitoring in adult ETPKU patients.
Authors
- Claudia Carducci (ORCID: https://orcid.org/0000-0003-0515-9208)
- Tiziana Pascucci (ORCID: https://orcid.org/0000-0003-1520-7373)
- Teresa Giovanniello
- Filippo Manti (ORCID: https://orcid.org/0000-0002-2012-8410)
- Francesca Nardecchia (ORCID: https://orcid.org/0000-0002-0808-2827)
- Vincenzo Leuzzi (ORCID: https://orcid.org/0000-0002-2314-6139)
- Antonio Angeloni (ORCID: https://orcid.org/0000-0003-4969-9548)
- Silvia Santagata
- Emanuele Di Carlo
- Francesco Pisani (ORCID: https://orcid.org/0000-0002-6853-5605)
Institutions
- Policlinico Umberto I (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Molecular Genetics and Metabolism
- Published
- 2025-03-17
- DOI
- https://doi.org/10.1016/j.ymgme.2025.109088
- Citations
- 1
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.32