Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.
Júlio César Rocha, Kirsten K Ahring, Heather Bausell, Deborah A Bilder, Cary O Harding, Anita Inwood, Nicola Longo, Ania C Muntau, André L Santos Pessoa, Fran Rohr, Serap Sivri, Álvaro Hermida
Author Information
Júlio César Rocha: NOVA Medical School, Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Campo Mártires da Pátria 130, 1169-056 Lisboa, Portugal.
Kirsten K Ahring: Departments of Paediatrics and Clinical Genetics, PKU Clinic, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, Denmark.
Heather Bausell: Division of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children's Hospital of Chicago, 225 E. Chicago Ave., Chicago, IL 60611, USA.
Deborah A Bilder: Department of Psychiatry, Division of Child & Adolescent Psychiatry, University of Utah Huntsman Mental Health Institute, 501 Chipeta Way, Salt Lake City, UT 84108, USA.
Cary O Harding: Department of Molecular and Medical Genetics, Oregon Health & Science University, 3222 SW Research Drive, Portland, OR 97239, USA.
Anita Inwood: Queensland Lifespan Metabolic Medicine Service, Queensland Children's Hospital, 501 Stanley St., South Brisbane, QLD 4101, Australia.
Nicola Longo: Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, 295 Chipeta Way, Salt Lake City, UT 84108, USA.
Ania C Muntau: Department of Pediatrics, University Children's Hospital, University Medical Centre Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, Germany. ORCID
André L Santos Pessoa: Albert Sabin Children's Hospital, R. Tertuliano Sales, 544-Vila União, Fortaleza 60410-794, CE, Brazil.
Fran Rohr: Met Ed, Boulder, CO 80302, USA.
Serap Sivri: Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Gevher Nesibe Cd., 06230 Ankara, Turkey. ORCID
Álvaro Hermida: Diagnosis and Treatment of Congenital Metabolic Diseases Unit (UDyTEMC), Department of Pediatrics, Faculty of Medicine, Clinical University Hospital of Santiago de Compostela, University of Santiago de Compostela, CIBERER, MetabERN, Institute of Clinical Research of Santiago de Compostela (IDIS), Rúa de San Francisco s/n, 15706 Santiago de Compostela, Spain. ORCID
Many adults with phenylketonuria (PKU) rely on medical nutrition therapy (MNT; low phenylalanine (Phe) diet with protein substitutes/medical foods) to maintain blood Phe concentrations within recommended ranges and prevent PKU-associated comorbidities. Despite disease detection through newborn screening and introduction of MNT as early as birth, adherence to MNT often deteriorates from childhood onwards, complicating the assessment of its effectiveness in the long term. Via a modified Delphi process, consensus (≥70% agreement) was sought on 19 statements among an international, multidisciplinary 13-member expert panel. After three iterative voting rounds, the panel achieved consensus on 17 statements related to the limitations of the long-term effectiveness of MNT (7), the burden of long-term reliance on MNT (4), and its potential long-term detrimental health effects (6). According to the expert panel, the effectiveness of MNT is limited in the long term, is associated with a high treatment burden, and demonstrates that adults with PKU are often unable to achieve metabolic control through dietary management alone, creating an unmet need in the adult PKU population.
