Article (Scientific journals)
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
van Wegberg, A.M.J.; Trefz, F.; Gizewska, M. et al.
2021In Journal of Pediatrics, 239, p. 231 - 234.e2
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Keywords :
immigrant; late diagnosis; NBS; phenylketonuria; refugee; phenylalanine; adolescent; adult; Article; asymptomatic disease; autism; child; developmental delay; epilepsy; Europe; false negative result; family; female; health program; health survey; human; inborn error of metabolism; infant; major clinical study; male; missed diagnosis; newborn; newborn screening; North America; Pacific islands; patient referral; questionnaire; symptom; Syrian Arab Republic; delayed diagnosis; global health; health care delivery; health care policy; health care survey; migrant; organization and management; preschool child; young adult; Adolescent; Adult; Child; Child, Preschool; Delayed Diagnosis; Emigrants and Immigrants; Female; Global Health; Health Care Surveys; Health Policy; Health Services Accessibility; Humans; Infant; Infant, Newborn; Male; Neonatal Screening; Phenylketonurias; Young Adult
Abstract :
[en] 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. © 2021 The Authors
Disciplines :
Genetics & genetic processes
Author, co-author :
van Wegberg, A.M.J.;  Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, Netherlands
Trefz, F.;  Dietmar Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany
Gizewska, M.;  Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases, and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland
Ahmed, S.;  Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan
Chabraoui, L.;  Central Laboratory of Biochemistry, University Hospital Ibn Sina of Rabat, Rabat, Morocco, Faculty of Pharmacy, University Euromed of Fez, Fez, Morocco
Zaki, M.S.;  Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Center, Cairo, Egypt, Egypt
Maillot, F.;  Internal Medicine Department, University Hospital of Tours, UMR INSERM 1253 “iBrain”, Tours, France
van Spronsen, F.J.;  Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, Netherlands
Ahring, K.
Al Mutairi, F.
Arnoux, J.B.
Ballhausen, D.
Baruteau, J.
Bernstein, L.
Bijarnia-Mahay, S.
Boemer, François  ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Bordugo, A.
Brodosi, L.
Brooks, S.
Chew, H.B.
Chyz, K.
Coker, M.
Collingwood, C.
Cornejo, V.
Couce, M.L.
Cozens, A.
Dahri, S.
Das, A.M.
de Laet, C.
de las Heras Montero, J.
de Vreugd, A.
Debray, François-Guillaume ;  Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique
Dercksen, M.
Descartes, M.
Diogo, L.
Drogari, E.
Eiroa, H.
Eminoglu, F.T.
Enns, G.M.
Eyskens, F.
Feillet, F.
Ford, S.
Franzson, L.
Freisinger, P.
Garcia, P.
Grafakou, O.
Gramer, G.
Gray, S.
Groselj, U.
Grünert, S.C.
Haas, D.
Handoom, B.
Harte, T.B.
Hendriksz, C.
Heredia, R.S.
Hertecant, J.
Hoi-Yee Wu, T.
Inwood, A.
Jamuar, S.S.
Jesina, P.
Jonsson, J.J.
Jovanovic, A.
Kern, I.
Kilavuz, S.
Knerr, I.
Kor, D.
Korycinska-Chaaban, D.
Kreile, M.
Kumru, B.
Lanpher, B.
Lapatto, R.
Lavigne, C.
Leao-Teles, E.
Leuzzi, V.
Longo, N.
Lopez-Uriarte, A.
Lubout, C.M.A.
MacDonald, A.
Megdad, E.M.
Mitchell, J.
Mochel, F.
Moreno-Lozano, P.J.
Morris, A.
Moura de Souza, C.F.
Munoz, T.
Nevalainen, P.I.
Oscarson, M.
Õunap, K.
Paci, S.
Pastores, G.M.
Pearl, P.L.
Piazzon, F.B.
Pitt, J.
Poon, G.
Porta, F.
Presner, N.
Rabaty, A.A.
Reinson, K.
Reismann, P.
Rink, T.
Rocha, J.C.
Rodrigues, E.
Saini, A.G.
Sanchez-Valle, A.
Sander, J.
Sarkhail, P.
Schwartz, I.V.D.
Sharma, R.
Sheng, B.
Siriwardena, K.
Sirrs, S.
Sjarif, D.R.
Sondheimer, N.
Sparkes, R.
Specola, N.
Stepien, K.M.
Szatmari, I.
Tchan, M.
Tkemaladze, T.
Tran, C.
Valle, M.G.
Vela-Amieva, M.
Verdaguer, M.L.
Vergano, S.A.
Vermeersch, P.
Vulturar, R.
Wagenmakers, M.A.E.M.
Weinhold, N.
Williams, A.B.
Wilson, W.G.
Zafeiriou, D.
Zhang, H.
Ziagaki, A.
Zolkowska, J.
Study Group on Missed PKU and Missed to Follow-Up
More authors (125 more) Less
Language :
English
Title :
Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
Publication date :
2021
Journal title :
Journal of Pediatrics
ISSN :
0022-3476
eISSN :
1097-6833
Publisher :
Elsevier Inc.
Volume :
239
Pages :
231 - 234.e2
Peer reviewed :
Peer Reviewed verified by ORBi
Funding text :
A.v.W. has received a research grant from Nutricia , honoraria from Biomarin as speaker, and travel support from Nutricia and Vitaflo . M.G. has been a member of the scientific advisory boards of Merck-Serono SA, and Biomarin and has received honoraria as a consultant and/or speaker for Biomarin, Merck Serono SA, Nutricia, and Vitaflo. F.M. has been a member of scientific advisory boards for PKU of APR, Arla Food International, and BioMarin; has received research grants from Biomarin ; and has received honoraria as consultant and speaker from Biomarin and Vitaflo. F.T. has received grants from Vitaflo Germany and honoraria as a speaker for Merck-Serono SA. F.v.S. is a member of scientific advisory boards for PKU and amino acid defects that are supported by Agios , Applied Pharma Research , Arla Food International , BioMarin , Eurocept , Homology , Lucane , Nestle-Codexis Alliance , Nutricia , Orphan Europe , Rivium Medical BV , and Vivet ; has received research grants from Alexion , BioMarin , Beatrix Research Fund , Codexis , ESPKU , NPKUA , NPKUV , Nutricia , Sobi , Tyrosinemia Foundation , Vitaflo , and ZonMw ; and has received honoraria as a consultant and speaker from Applied Pharma Research, Biomarin, MendeliKABS, Nutricia, Orphan Europe, Pluvia Biotech, SoBi, and Vitaflo. The other authors declare no conflicts of interest.
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