Valentina Rovelli, MDTranslating metabolism into medicine.← Back to the main website

International Collaborations

International PKU
Clinical Advisory

I provide independent clinical and scientific advisory in phenylketonuria and hyperphenylalaninaemia, supporting healthcare teams and organisations in complex clinical decision-making, care pathway development, research and professional education.

Institutional enquiries

Bringing specialist PKU expertise into complex decisions and care pathways, while strengthening local teams and their capacity to provide longitudinal care.

Clinical focus

My approach to PKU and hyperphenylalaninaemia connects biochemical and genetic findings with nutritional status, neurological and neurocognitive outcomes, and the practical demands of treatment.

I focus on how these elements inform clinical decisions over time: how treatment options are assessed, how response is evaluated, and how follow-up reflects changing needs. This perspective also shapes my interest in care pathways that connect specialist input with the professionals responsible for ongoing care.

International PKU Clinical Advisory

Areas of advisory

Complex Clinical Advisory

Specialist input for healthcare professionals addressing complex PKU or hyperphenylalaninaemia questions, including situations in which biochemical findings, clinical outcomes and treatment experience require further interpretation.

  • Clinician-to-clinician consultation and specialist second opinions integrating biochemical, nutritional, genetic and clinical information.
  • Multidisciplinary case discussions, including virtual case boards with the treating team.
  • Support in assessing therapeutic options, treatment response, adherence and treatment burden.
  • Review of questions concerning transition to adult care, maternal PKU, nutritional complications and neurocognitive outcomes.

Care Pathways and Capacity Building

Advisory for centres and organisations developing PKU care pathways or strengthening the expertise available within an existing service.

  • Review of the pathway from screening and diagnosis to treatment and longitudinal follow-up.
  • Development of shared-care arrangements, referral criteria and communication between specialist and local teams.
  • Professional education for physicians, metabolic dietitians and multidisciplinary teams, tailored to their clinical setting.
  • Support for transition planning and the integration of new therapies into clinical practice and follow-up.

Scientific and Clinical Development Advisory

Clinical insight for research, therapeutic development and professional education, with attention to unmet needs and the practical context of PKU care.

  • Participation in scientific and clinical advisory boards.
  • Input into research questions, clinically relevant outcomes and protocol feasibility.
  • Assessment of patient pathways, treatment burden and practical considerations in clinical development.
  • Scientific contributions to educational programmes and projects led by centres, professional societies, patient organisations and life-science organisations.

Who I work with

This advisory work is intended for:

  • Clinical teams and specialist centres, including metabolic services, paediatric and genetics departments, and professionals involved in PKU and hyperphenylalaninaemia care.
  • Professional, patient and healthcare organisations developing education, care pathways or programmes to strengthen local expertise.
  • Research and life-science organisations, including academic groups, study sponsors, pharmaceutical and biotechnology companies, and contract research organisations.

Each collaboration is considered in relation to the need, the specialist contribution sought and the scope of the proposed work.

Approach to collaboration

  1. Describe the need

    The initial enquiry outlines your organisation, the question or project you are addressing, and the contribution you are seeking. Please provide an organisational or project-level description without patient-identifiable information.

  2. Initial review

    I review the enquiry for relevance to my expertise and the advisory areas outlined above.

  3. Exploratory discussion

    Where there is a suitable fit, an exploratory discussion helps clarify the objectives, the people involved and the expected contribution.

  4. Define the collaboration

    The scope, responsibilities, outputs and timing of any engagement are agreed before work begins. Remote or in-person participation is considered according to the needs of the project.

Clinical advisory complements the local treating team, which retains responsibility for patient care, prescribing and ongoing follow-up. Any individual case work requires an agreed scope and appropriate clinical, confidentiality and information-sharing arrangements before it begins.

Clinical and scientific background

I am a paediatrician with specialist clinical and research experience in phenylketonuria, hyperphenylalaninaemia and inherited metabolic diseases. My clinical work at San Paolo Hospital in Milan included specialist metabolic care, and my scientific interests span clinical nutrition, genetics and neurological and neurocognitive outcomes.

I have served as Principal Investigator and Sub-Investigator in national and international clinical studies in PKU and inherited metabolic diseases. My publications address PKU and related clinical questions, including the relationship between metabolism and brain function, nutritional complications and continuity of care.

For PKU-CON 2025, I served as Scientific Coordinator and as a member of the Scientific Secretariat. I am Co-President of PKU-CON 2027, taking place in Málaga, Spain, on 18–20 March 2027.

My current independent practice combines paediatric clinical work with specialist clinical and scientific advisory.

ORCID ↗PubMed ↗LinkedIn ↗

A full curriculum vitae is available on request.

Publications

Publications on PKU and hyperphenylalaninaemia, grouped by authorship position and listed in reverse chronological order.

Bibliography updated: 15 September 2026.

First- or last-author publications

The publications listed below are first-author contributions.

  1. Effects of a Prolonged-Release Protein Substitute on 24-h Phenylalanine and Tyrosine Profiles in Phenylketonuria: A Randomized Crossover Study.

    Rovelli V, Cefalo G, Re Dionigi A, Finizii A, Paci S, Zuvadelli J, Banderali G.

    Nutrients. 2026 Aug 21;18(16):2738. DOI: 10.3390/nu18162738

  2. Why re-think dietary treatment in PKU?

    Rovelli V, Zuvadelli J, Re Dionigi A, Finizii A, Selmi R, Paci S, Cefalo G, Banderali G.

    Journal of Innate Metabolism. 2025;2(Suppl 1):e951.

  3. Unmet needs in phenylketonuria: an exploratory Italian survey among patients and caregivers.

    Rovelli V, Dicintio A, Cazzorla C.

    Curr Med Res Opin. 2024. DOI: 10.1080/03007995.2024.2337662

  4. Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis.

    Rovelli V, Ercoli V, Re Dionigi A, Paci S, Salvatici E, Zuvadelli J, Banderali G.

    Mol Genet Metab Rep. 2023 Aug 9;36:100998. DOI: 10.1016/j.ymgmr.2023.100998

  5. Phenylketonuria and the brain.

    Rovelli V, Longo N.

    Mol Genet Metab. 2023 May;139(1):107583. DOI: 10.1016/j.ymgme.2023.107583

  6. Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy.

    Rovelli V, Cefalo G, Ercoli V, Zuvadelli J, Turri O, Graziani D, Alberti L, Bassi D, Re Dionigi A, Selmi R, Paci S, Salvatici E, Banderali G.

    Endocrinol Diabetes Metab. 2023 Mar;6(2):e396. DOI: 10.1002/edm2.396

  7. Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia.

    Rovelli V, Zuvadelli J, Paci S, Ercoli V, Re Dionigi A, Selmi R, Salvatici E, Cefalo G, Banderali G.

    Healthcare (Basel). 2021 Oct 20;9(11):1407. DOI: 10.3390/healthcare9111407

  8. PKU and COVID19: How the pandemic changed metabolic control.

    Rovelli V, Zuvadelli J, Ercoli V, Montanari C, Paci S, Re Dionigi A, Scopari A, Salvatici E, Cefalo G, Banderali G.

    Mol Genet Metab Rep. 2021 Jun;27:100759. DOI: 10.1016/j.ymgmr.2021.100759

Other co-authored publications

  1. Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach.

    Ameijeiras AH, Vucko E, Harding CO, Lah M, Muntau AC, Rovelli V, Thomas JA, Rose S, Lindstrom K, Sacharow S.

    Mol Genet Metab. 2026 Apr;147(4):109768. DOI: 10.1016/j.ymgme.2026.109768

  2. Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights.

    Scala I, Brodosi L, Gueraldi D, Manti F, Rovelli V, Zuvadelli J, Agnelli G, Cazzorla C, Nardecchia F, Giammanco A, Biasucci G.

    Mol Genet Metab. 2024 May;142(1):108151. DOI: 10.1016/j.ymgme.2024.108151

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

    Scala I, Brodosi L, Rovelli V, Noto D, Burlina A.

    Mol Genet Metab Rep. 2024 Feb 22;39:101065. DOI: 10.1016/j.ymgmr.2024.101065

  4. Breastfeeding in Phenylketonuria: Changing Modalities, Changing Perspectives.

    Zuvadelli J, Paci S, Salvatici E, Giorgetti F, Cefalo G, Re Dionigi A, Rovelli V, Banderali G.

    Nutrients. 2022 Oct 5;14(19):4138. DOI: 10.3390/nu14194138

  5. Phenylketonuria Diet Promotes Shifts in Firmicutes Populations.

    Bassanini G, Ceccarani C, Borgo F, Severgnini M, Rovelli V, Morace G, Verduci E, Borghi E.

    Front Cell Infect Microbiol. 2019 Apr 16;9:101. DOI: 10.3389/fcimb.2019.00101

  6. Phenylketonuric diet negatively impacts on butyrate production.

    Verduci E, Moretti F, Bassanini G, Banderali G, Rovelli V, Casiraghi MC, Morace G, Borgo F, Borghi E.

    Nutr Metab Cardiovasc Dis. 2018 Apr;28(4):385-392. DOI: 10.1016/j.numecd.2018.01.004

  7. Dietary glycemic index, glycemic load and metabolic profile in children with phenylketonuria.

    Moretti F, Pellegrini N, Salvatici E, Rovelli V, Banderali G, Radaelli G, Scazzina F, Giovannini M, Verduci E.

    Nutr Metab Cardiovasc Dis. 2017 Feb;27(2):176-182. DOI: 10.1016/j.numecd.2016.11.002

Related publications: HPA, screening and transition

Additional co-authored work on tetrahydrobiopterin-related HPA, newborn screening and transition in inherited metabolic diseases.

  1. Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey.

    Rossi A, Pancaldi C, Regazzi MG, et al. Co-author: Valentina Rovelli.

    Orphanet J Rare Dis. 2025 May 22;20(1):241. DOI: 10.1186/s13023-025-03755-8

  2. Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

    Ruoppolo M, Malvagia S, Boenzi S, et al. Co-author: Valentina Rovelli.

    Int J Neonatal Screen. 2022 Aug 9;8(3):47. DOI: 10.3390/ijns8030047

  3. Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey.

    Stepien KM, Kieć-Wilk B, Lampe C, Tangeraas T, Cefalo G, Belmatoug N, Francisco R, Del Toro M, Wagner L, Lauridsen AG, Sestini S, Weinhold N, Hahn A, Montanari C, Rovelli V, Bellettato CM, Paneghetti L, van Lingen C, Scarpa M.

    Front Med (Lausanne). 2021 Feb 25;8:652358. DOI: 10.3389/fmed.2021.652358

  4. Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.

    Manti F, Nardecchia F, Banderali G, Burlina A, Carducci C, Carducci C, Donati MA, Gueraldi D, Paci S, Pochiero F, Porta F, Ortolano R, Rovelli V, Schiaffino MC, Spada M, Blau N, Leuzzi V.

    Mol Genet Metab. 2020 Sep-Oct;131(1-2):155-162. DOI: 10.1016/j.ymgme.2020.06.009

International PKU Clinical Advisory

Institutional enquiries

For clinical advisory, care pathway development, or scientific and educational projects, please describe your organisation, the need you are addressing and the contribution you are seeking.

Enquiries are reviewed for relevance and fit before an exploratory discussion is arranged.

Please do not include patient-identifiable information.

Enquiry form

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