Portal de Periódicos da CAPES

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

2021; Elsevier BV; Volume: 239; Linguagem: Inglês

10.1016/j.jpeds.2021.08.070

1097-6833

Annemiek M. J. van Wegberg, Friedrich K. Trefz, Maria Giżewska, Sibtain Ahmed, Layachi Chabraoui, Maha S. Zaki, F. Maillot, Francjan J. van Spronsen, Kirsten Ahring, Fuad Al Mutairi, Jean‐Baptiste Arnoux, Diana Ballhausen, Julien Baruteau, Larry Bernstein, Sunita Bijarnia‐Mahay, François Boemer, Andrea Bordugo, Lucia Brodosi, Steve Brooks, Hui Bein Chew, Katarzyna Chyż, Modupe O. Coker, Catherine Collingwood, Víctor Cornejo, María L. Couce, Alison Cozens, S. Dahri, Anibh M. Das, Corinne De Laet, Javier de las Heras, A. de Vreugd, François Guillaume Debray, Marli Dercksen, Maria Descartes, Luísa Diogo, Euridiki Drogari, Hernán Eiroa, Fatma Tuba Eminoğlu, Greg Enns, François Eyskens, François Feillet, Suzanne Ford, Leifur Franzson, Peter Freisinger, Pedro Roberto Bandeira Garcia, Olga Grafakou, Gwendolyn Gramer, Susan Gray, Urh Grošelj, Sarah C. Grünert, Dorothea Haas, Bedour Handoom, T.B. Harte, Christian J. Hendriksz, R.S. Heredia, Jozef Hertecant, T. Hoi-Yee Wu, Anita Inwood, Saumya Shekhar Jamuar, Pavel Ješina, Jón J. Jónsson, Aleksandar Jovanović, Izabela Kern-Zdanowicz, Sebile Kılavuz, Ina Knerr, Deniz Kör, Dorota Korycińska-Chaaban, Madara Kreile, Burcu Kumru, Brendan C. Lanpher, Risto Lapatto, Christian Lavigne, Elisa Leão Teles, Vincenzo Leuzzi, Nicola Longo, A. Lopez-Uriarte, Charlotte M. A. Lubout, Anita MacDonald, Eman Megdad, J. N. Mitchell, Fanny Mochel, Pedro Moreno, A. Morris, Carolina Fischinger Moura de Souza, Tamara Muñoz, Pasi I. Nevalainen, Mikael Oscarson, Katrin Õunap, Sabrina Paci, GM Pastores, Phillip L. Pearl, Flávia Piazzon, James Pitt, Gregory M.K. Poon, Fulvio Porta, N. Presner, Abbas Rabaty, Karit Reinson, Péter Reismann, Thomas Rink, Júlio César Rocha, Eliana Monteiro Rodrigues, Arushi Gahlot Saini, Amarilis Sanchez‐Valle, Josemir W. Sander, P. Sarkhail, Ida Vanessa Döederlein Schwartz, Reena Sharma, Bun Sheng, Komudi Siriwardena, Sandra Sirrs, Damayanti Rusli Sjarif, Neal Sondheimer, R.S. Sparkes, Norma Spécola, Karolina M. Stępień, Ildikó Szatmári, Michel Tchan, Tinatin Tkemaladze, Christel Tran, Mayte Valle, Marcela Vela‐Amieva, M Verdaguer, Samantha A. Schrier Vergano, Pieter Vermeersch, Romana Vulturar, Margreet A. E. M. Wagenmakers, Natalie Weinhold, A. B. Williams, William G. Wilson, Dimitrios Zafeiriou, Hailin Zhang, Athanasia Ziagaki, Joanna Żółkowska,

Mitochondrial Function and Pathology

Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants, and 145 of the 259 (55%) were born before NBS or in a location without NBS.