Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria
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 scree...
| Main Authors: | , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-09-01
|
| Series: | Nutrients |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2072-6643/15/18/3940 |
| _version_ | 1797578305225883648 |
|---|---|
| author | 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_facet | 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_sort | Júlio César Rocha |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-10T22:20:02Z |
| format | Article |
| id | doaj.art-2068e16e9ca341faa64ac060a258f026 |
| institution | Directory Open Access Journal |
| issn | 2072-6643 |
| language | English |
| last_indexed | 2024-03-10T22:20:02Z |
| publishDate | 2023-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Nutrients |
| spelling | doaj.art-2068e16e9ca341faa64ac060a258f0262023-11-19T12:18:01ZengMDPI AGNutrients2072-66432023-09-011518394010.3390/nu15183940Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with PhenylketonuriaJúlio César Rocha0Kirsten K. Ahring1Heather Bausell2Deborah A. Bilder3Cary O. Harding4Anita Inwood5Nicola Longo6Ania C. Muntau7André L. Santos Pessoa8Fran Rohr9Serap Sivri10Álvaro Hermida11NOVA Medical School, Faculdade de Ciências Médicas, Universidade NOVA de Lisboa, Campo Mártires da Pátria 130, 1169-056 Lisboa, PortugalDepartments of Paediatrics and Clinical Genetics, PKU Clinic, Copenhagen University Hospital, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen, DenmarkDivision of Genetics, Genomics, and Metabolism, Ann & Robert H Lurie Children’s Hospital of Chicago, 225 E. Chicago Ave., Chicago, IL 60611, USADepartment of Psychiatry, Division of Child & Adolescent Psychiatry, University of Utah Huntsman Mental Health Institute, 501 Chipeta Way, Salt Lake City, UT 84108, USADepartment of Molecular and Medical Genetics, Oregon Health & Science University, 3222 SW Research Drive, Portland, OR 97239, USAQueensland Lifespan Metabolic Medicine Service, Queensland Children’s Hospital, 501 Stanley St., South Brisbane, QLD 4101, AustraliaDepartment of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, 295 Chipeta Way, Salt Lake City, UT 84108, USADepartment of Pediatrics, University Children’s Hospital, University Medical Centre Hamburg-Eppendorf, Martinistraße 52, 20246 Hamburg, GermanyAlbert Sabin Children’s Hospital, R. Tertuliano Sales, 544—Vila União, Fortaleza 60410-794, CE, BrazilMet Ed, Boulder, CO 80302, USADivision of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Gevher Nesibe Cd., 06230 Ankara, TurkeyDiagnosis 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, SpainMany 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.https://www.mdpi.com/2072-6643/15/18/3940phenylketonuriaPKUadultcomorbiditiesmedical nutrition therapylow Phe diet |
| spellingShingle | 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 Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria Nutrients phenylketonuria PKU adult comorbidities medical nutrition therapy low Phe diet |
| title | Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria |
| title_full | Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria |
| title_fullStr | Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria |
| title_full_unstemmed | Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria |
| title_short | Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria |
| title_sort | expert consensus on the long term effectiveness of medical nutrition therapy and its impact on the outcomes of adults with phenylketonuria |
| topic | phenylketonuria PKU adult comorbidities medical nutrition therapy low Phe diet |
| url | https://www.mdpi.com/2072-6643/15/18/3940 |
| work_keys_str_mv | AT juliocesarrocha expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria AT kirstenkahring expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria AT heatherbausell expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria AT deborahabilder expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria AT caryoharding expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria AT anitainwood expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria AT nicolalongo expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria AT aniacmuntau expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria AT andrelsantospessoa expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria AT franrohr expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria AT serapsivri expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria AT alvarohermida expertconsensusonthelongtermeffectivenessofmedicalnutritiontherapyanditsimpactontheoutcomesofadultswithphenylketonuria |