Article
Nutrition & Dietetics
Elena Dios-Fuentes, Montserrat Gonzalo Marin, Pablo Remon-Ruiz, Rosa Benitez Avila, Maria A. Bueno Delgado, Javier Blasco Alonso, Viyei Kishore Doulatram Gamgaram, Gabriel Olveira, Alfonso Soto-Moreno, Eva Venegas-Moreno
Summary: This retrospective descriptive study examines the clinical characteristics and treatment of 90 adult PKU patients in Andalusia, finding a high prevalence of obesity, dyslipidemia, and osteoporosis among the cohort.
Article
Endocrinology & Metabolism
Mika Ishige, Tetsuya Ito, Takashi Hamazaki, Mitsuhiro Kuwahara, Lawrence Lee, Haruo Shintaku
Summary: This study provides evidence supporting the use of pegvaliase in Japanese adults with PKU, demonstrating its ability to reduce blood phenylalanine levels effectively and with manageable safety.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Genetics & Heredity
Alberto Burlina, Giacomo Biasucci, Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli, Vincenzo Leuzzi
Summary: Phenylketonuria (PKU) is a rare inherited metabolic disorder caused by defects in the phenylalanine-hydroxylase gene, leading to phenylalanine accumulation in the blood and brain. This study aims to establish national guidelines to harmonize and optimize patient care in Italy, addressing inconsistencies in disease management identified in expert surveys.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Biotechnology & Applied Microbiology
Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Maria Jose Limeres, Sebastian Wirsching, Katja Hilbert, Mansure Abdollah Pasha Famian, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frederic Chevessier-Tunnesen, Stephan Gehring
Summary: Phenylketonuria (PKU) is an inborn error of metabolism caused by a deficiency in functional phenylalanine hydroxylase (PAH), resulting in the accumulation of phenylalanine (Phe) in patients' blood and organs. Early diagnosis and treatment are crucial, but the current treatment options have limitations. An mRNA-based approach shows potential in reducing Phe accumulation and treating PKU. This alternative treatment could significantly improve the quality of life for PKU patients.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2022)
Article
Endocrinology & Metabolism
Krista Viau, Ann Wessel, Leslie Martell, Stephanie Sacharow, Fran Rohr
Summary: Adults with PKU treated with pegvaliase have normal nutritional intake, protein, micronutrient, and fatty acid status when consuming a normal protein diet, but suboptimal diet quality and some individuals may experience food neophobia.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Nutrition & Dietetics
Maria Ines Gama, Anne Daly, Catherine Ashmore, Sharon Evans, Andre Moreira-Rosario, Julio Cesar Rocha, Anita MacDonald
Summary: This study investigated the changes in dietary patterns, mental health, and burden of care in children with PKU after sapropterin treatment. The results showed that after 6 months of treatment, there were significant positive changes in food quality, with increased intake of natural protein and decreased intake of protein substitutes. The burden of care on caregivers also reduced, along with improvements in anxiety and depression levels.
Article
Endocrinology & Metabolism
Kismet Ciki, Yilmaz Yildiz, Ayca Burcu Kahraman, R. Koksal Ozgul, Turgay Coskun, Ali Dursun, Aysegul Tokatli, Serap Sivri
Summary: This study found that the Phe:Tyr ratio at diagnosis >5.25 in PKU patients treated initially with sapropterin monotherapy was associated with future dietary treatment. Additionally, the genotypic phenotype value was also linked to the need for dietary treatment.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Genetics & Heredity
Deborah A. Bilder, Georgianne L. Arnold, David Dimmock, Mitzie L. Grant, Darren Janzen, Nicola Longo, Mina Nguyen-Driver, Elaina Jurecki, Markus Merilainen, Gianni Amato, Susan Waisbren
Summary: The study shows that there is a relationship between phenylalanine levels and inattention in adult PKU patients, suggesting that reducing phenylalanine levels may improve symptoms of inattention. The greatest improvements in inattention symptoms were seen in participants with the largest reductions in plasma phenylalanine levels, supporting the value of this as a therapeutic goal.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Endocrinology & Metabolism
Suzanne Hollander, Krista Viau, Stephanie Sacharow
Summary: A retrospective chart review conducted at the Boston Children's Hospital PAL Clinic suggests that the dose of pegvaliase may decrease over time in adults with phenylketonuria (PKU) and there is an inverse correlation between dose change and number of weeks from response. Patients may be able to tolerate a reduction in pegvaliase dose while maintaining efficacy, which could lead to a decrease in the number of weekly injections.
MOLECULAR GENETICS AND METABOLISM
(2022)
Review
Nutrition & Dietetics
Catarina Rodrigues, Alex Pinto, Ana Faria, Diana Teixeira, Annemiek M. J. van Wegberg, Kirsten Ahring, Francois Feillet, Conceicao Calhau, Anita MacDonald, Andre Moreira-Rosario, Julio Cesar Rocha
Summary: This study found that the majority of patients with PKU had similar body mass index (BMI) compared to healthy controls, with no evidence that a phenylalanine (Phe)-restricted diet leads to overweight. However, a subgroup of patients with classical PKU showed significantly higher BMI compared to healthy controls. Thus, patients with PKU should receive lifelong follow-up, personalized nutritional counseling, and systematic nutritional status monitoring.
Article
Genetics & Heredity
Amy Cunningham, Fran Rohr, Patricia Splett, Shideh Mofidi, Heather Bausell, Adrya Stembridge, Aileen Kenneson, Rani H. Singh
Summary: This study provides an update on the nutrition management guidelines for individuals with phenylketonuria (PKU) receiving pegvaliase therapy. The guidelines cover topics such as initiating and monitoring therapy, managing treatment, education and support, and therapy during pregnancy, lactation, and adolescence. The recommendations aim to improve clinical outcomes and promote consistency in PKU management.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Review
Nutrition & Dietetics
Mariangela Rondanelli, Francesco Porta, Clara Gasparri, Gaetan Claude Barrile, Alessandro Cavioni, Francesca Mansueto, Giuseppe Mazzola, Zaira Patelli, Gabriella Peroni, Martina Pirola, Claudia Razza, Alice Tartara, Simone Perna
Summary: Early dietary treatment is crucial for patients with phenylketonuria to protect their brain. Transition from pediatric to adult care is challenging, with many patients discontinuing diet or being lost at follow-up. This review aims to evaluate dietary treatment for adults and provide a food pyramid for this population.
CLINICAL NUTRITION
(2023)
Article
Endocrinology & Metabolism
Susan Waisbren, Barbara K. Burton, Annette Feigenbaum, Laura L. Konczal, Joshua Lilienstein, Shawn E. McCandless, Richard Rowell, Amarilis Sanchez-Valle, Kaleigh B. Whitehall, Nicola Longo
Summary: Sapropterin dihydrochloride is effective in treating infants and young children with PKU by reducing Phe levels, preserving intellectual functioning, and maintaining normal growth.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Medical Laboratory Technology
Sarah L. Hogg, Rachel S. Carling, Nathan W. P. Cantley, Gillian Hamilton, Philippa Goddard, Helen Aitkenhead, Robert Barski, Catherine Collingwood, Stuart J. Moat, Helena J. Kemp
Summary: Sapropterin has been approved as a treatment option in the UK for Phenylketonuria patients. The quality of patient-collected dried blood spot (DBS) specimens varies significantly. A study evaluated the impact of introducing evidence-based guidelines for specimen acceptance criteria and found an increase in specimen rejection rates.
ANNALS OF CLINICAL BIOCHEMISTRY
(2023)
Article
Endocrinology & Metabolism
Drago Bratkovic, Lali Margvelashvili, Michel C. Tchan, Janelle Nisbet, Neil Smith
Summary: In this study, the researchers compared the effects of PTC923 and sapropterin on blood phenylalanine levels. The results showed that PTC923 was more effective in reducing blood phenylalanine levels, especially at higher doses (60 mg/kg), and had a faster onset of action.
METABOLISM-CLINICAL AND EXPERIMENTAL
(2022)
Review
Endocrinology & Metabolism
Julio Cesar Rocha, Margreet van Rijn, Esther van Dam, Kirsten Ahring, Amaya Belanger-Quintana, Katharina Dokoupil, Hulya Gokmen Ozel, Anna Maria Lammardo, Martine Robert, Carina Heidenborg, Anita MacDonald
ANNALS OF NUTRITION AND METABOLISM
(2016)
Review
Genetics & Heredity
A. M. J. van Wegberg, A. MacDonald, K. Ahring, A. Belanger-Quintana, N. Blau, A. M. Bosch, A. Burlina, J. Campistol, F. Feillet, M. Gizewska, S. C. Huijbregts, S. Kearney, V. Leuzzi, F. Maillot, A. C. Muntau, M. van Rijn, F. Trefz, J. H. Walter, F. J. van Spronsen
ORPHANET JOURNAL OF RARE DISEASES
(2017)
Letter
Endocrinology & Metabolism
Francjan J. van Spronsen, Annemiek M. J. van Wegberg, Kirsten Ahring, Amaya Belanger-Quintana, Nenad Blau, Annet M. Bosch, Alberto Burlina, Jaime Campistol, Francois Feillet, Maria Gizewska, Stephan C. Huijbregts, Shauna Kearney, Vincenzo Leuzzi, Francois Maillot, Ania C. Muntau, Fritz K. Trefz, Margreet van Rijn, Anita MacDonald
LANCET DIABETES & ENDOCRINOLOGY
(2017)
Review
Endocrinology & Metabolism
Francjan J. van Spronsen, Annemiek M. J. van Wegberg, Kirsten Ahring, Amaya Belanger-Quintana, Nenad Blau, Annet M. Bosch, Alberto Burlina, Jaime Campistol, Francois Feillet, Maria Gizewska, Stephan C. Huijbregts, Shauna Kearney, Vincenzo Leuzzi, Francois Maillot, Ania C. Muntau, Fritz K. Trefz, Margreet van Rijn, John H. Walter, Anita MacDonald
LANCET DIABETES & ENDOCRINOLOGY
(2017)
Review
Genetics & Heredity
Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, Francois Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jorgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan O. Mungan, Francesca Nardecchia, Katrin Ounap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
ORPHANET JOURNAL OF RARE DISEASES
(2018)
Article
Endocrinology & Metabolism
Julio Cesar Rocha, Esther van Dam, Kirsten Ahring, Manuela Ferreira Almeida, Amaya Belanger-Quintana, Katharina Dokoupil, Hulya Gokmen-Ozel, Martine Robert, Carina Heidenborg, Emma Harbage, Anita MacDonald
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2019)
Review
Nutrition & Dietetics
Fatma Ilgaz, Alex Pinto, Hulya Gokmen-Ozel, Julio Cesar Rocha, Esther van Dam, Kirsten Ahring, Amaya Belanger-Quintana, Katharina Dokoupil, Erdem Karabulut, Anita MacDonald
Article
Nutrition & Dietetics
Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, Bozena Didycz, Maja Djordjevic, Jozef L. Hertecant, Vincenzo Leuzzi, Per Mathisen, Francesca Nardecchia, Kimberly K. Powell, Frank Rutsch, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
Review
Genetics & Heredity
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Belanger-Quintana, A. Burlina, J. Campistol, T. Coskun, F. Feillet, M. Gizewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen
ORPHANET JOURNAL OF RARE DISEASES
(2020)
Correction
Genetics & Heredity
A. MacDonald, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Belanger-Quintana, A. Burlina, J. Campistol, T. Coskun, F. Feillet, M. Gizewska, S. C. Huijbregts, V. Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. Trefz, F. J. van Spronsen
ORPHANET JOURNAL OF RARE DISEASES
(2020)
Article
Endocrinology & Metabolism
R. A. F. Evers, A. M. J. van Wegberg, K. Ahring, S. Beblo, A. Belanger-Quintana, A. M. Bosch, A. Burlina, J. Campistol, T. Coskun, F. Feillet, M. Gizewska, S. C. J. Huijbregts, S. Kearney, M. Langeveld, V Leuzzi, F. Maillot, A. C. Muntau, J. C. Rocha, C. Romani, F. K. Trefz, A. MacDonald, F. J. van Spronsen
Summary: The study found that there is a high degree of heterogeneity in defining long-term BH4 responsiveness for patients with phenylketonuria, not only globally but also within the same medical centers. Developing a definition based on strong evidence and consensus would improve the quality of BH4 treatment.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Genetics & Heredity
A. Pinto, S. Adams, K. Ahring, H. Allen, M. F. Almeida, D. Garcia-Arenas, N. Arslan, M. Assoun, Y. Atik Altinok, D. Barrio-Carreras, A. Belanger Quintana, S. M. Bernabei, C. Bontemps, F. Boyle, G. Bruni, M. Bueno-Delgado, G. Caine, R. Carvalho, A. Chrobot, K. Chyz, B. Cochrane, C. Correia, K. Corthouts, A. Daly, S. De Leo, A. Desloovere, A. De Meyer, A. De Theux, B. Didycz, M. E. Dijsselhof, K. Dokoupil, J. Drabik, C. Dunlop, W. Eberle-Pelloth, K. Eftring, J. Ekengrena, I. Errekalde, S. Evans, A. Foucart, L. Fokkema, L. Francois, M. French, E. Forssell, C. Gingell, C. Goncalves, H. Gokmen Ozel, A. Grimsley, G. Gugelmo, E. Gyure, C. Heller, R. Hensler, I. Jardim, C. Joost, M. Joerg-Streller, C. Jouault, A. Jung, M. Kanthe, N. Koc, I. L. Kok, T. Kozanoglu, B. Kumru, F. Lang, K. Lang, I. Liegeois, A. Liguori, R. Lilje, O. Lubina, P. Manta-Vogli, D. Mayr, C. Meneses, C. Newby, U. Meyer, S. Mexia, C. Nicol, U. Och, S. M. Olivas, C. Pedron-Giner, R. Pereira, K. Plutowska-Hoffmann, J. Purves, A. Re Dionigi, K. Reinson, M. Robert, L. Robertson, J. C. Rocha, C. Rohde, S. Rosenbaum-Fabian, A. Rossi, M. Ruiz, J. Saligova, A. Gutierrez-Sanchez, A. Schlune, K. Schulpis, J. Serrano-Nieto, A. Skarpalezou, R. Skeath, A. Slabbert, K. Straczek, M. Gizewska, A. Terry, R. Thom, A. Tooke, J. Tuokkola, E. van Dam, T. A. M. van den Hurk, E. M. C. van der Ploegcn, K. Vande Kerckhove, M. Van Driessche, A. M. J. van Wegberg, K. van Wyk, C. Vasconcelos, V. Velez Garcia, J. Wildgoose, T. Winkler, J. Zolkowska, J. Zuvadelli, A. MacDonald
MOLECULAR GENETICS AND METABOLISM REPORTS
(2019)
Article
Genetics & Heredity
A. Pinto, S. Adams, K. Ahring, H. Allen, M. F. Almeida, D. Garcia-Arenas, N. Arslan, M. Assoun, Y. Atik Altinok, D. Barrio-Carreras, A. Belanger Quintana, S. M. Bernabei, C. Bontemps, F. Boyle, G. Bruni, M. Bueno-Delgado, G. Caine, R. Carvalho, A. Chrobot, K. Chyz, B. Cochrane, C. Correia, K. Corthouts, A. Daly, S. De Leo, A. Desloovere, A. De Meyer, A. De Theux, B. Didycz, M. E. Dijsselhof, K. Dokoupil, J. Drabik, C. Dunlop, W. Eberle-Pelloth, K. Eftring, J. Ekengren, I. Errekalde, S. Evans, A. Foucart, L. Fokkema, L. Francois, M. French, E. Forssell, C. Gingell, C. Goncalves, H. Gokmen Ozel, A. Grimsley, G. Gugelmo, E. Gyure, C. Heller, R. Hensler, I. Jardim, C. Joost, M. Joerg-Streller, C. Jouault, A. Jung, M. Kanthe, N. Koc, I. L. Kok, T. Kozanoglu, B. Kumru, F. Lang, K. Lang, I. Liegeois, A. Liguori, R. Lilje, O. Lubina, P. Manta-Vogli, D. Mayr, C. Meneses, C. Newby, U. Meyer, S. Mexia, C. Nicol, U. Och, S. M. Olivas, C. Pedron-Giner, R. Pereira, K. Plutowska-Hoffmann, J. Purves, A. Re Dionigi, K. Reinson, M. Robert, L. Robertson, J. C. Rocha, C. Rohde, S. Rosenbaum-Fabian, A. Rossi, M. Ruiz, J. Saligova, A. Gutierrez-Sanchez, A. Schlune, K. Schulpis, J. Serrano-Nieto, A. Skarpalezou, R. Skeath, A. Slabbert, K. Straczek, M. Gizewska, A. Terry, R. Thom, A. Tooke, J. Tuokkola, E. van Dam, T. A. M. van den Hurk, E. M. C. van der Ploeg, K. Vande Kerckhove, M. Van Driessche, A. M. J. van Wegberg, K. van Wyk, C. Vasconcelos, V. Velez Garcia, J. Wildgoose, T. Winkler, J. Zolkowska, J. Zuvadelli, A. MacDonald
MOLECULAR GENETICS AND METABOLISM REPORTS
(2018)
Article
Nutrition & Dietetics
Kirsten K. Ahring, Allan M. Lund, Erik Jensen, Thomas G. Jensen, Karen Brondum-Nielsen, Michael Pedersen, Allan Bardow, Jens Juul Holst, Jens F. Rehfeld, Lisbeth B. Moller
JOURNAL OF NUTRITION AND METABOLISM
(2018)