Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Annemiek M J van Wegberg¹, Friedrich Trefz², Maria Gizewska³, Sibtain Ahmed⁴, Layachi Chabraoui⁵, Maha S Zaki⁶, François Maillot⁷, Francjan J van Spronsen⁸; Study Group on Missed PKU and Missed to Follow-Up

Collaborators, Affiliations

Collaborators

Study Group on Missed PKU and Missed to Follow-Up:
K Ahring, F Al Mutairi, J B Arnoux, D Ballhausen, J Baruteau, L Bernstein, S Bijarnia-Mahay, F Boemer, A Bordugo, L Brodosi, S Brooks, H B Chew, K Chyz, M Coker, C Collingwood, V Cornejo, M L Couce, A Cozens, S Dahri, A M Das, C de Laet, J de Las Heras Montero, A de Vreugd, F G Debray, M Dercksen, M Descartes, L Diogo, E Drogari, H Eiroa, F T Eminoglu, G M Enns, F Eyskens, F Feillet, S Ford, L Franzson, P Freisinger, P Garcia, O Grafakou, G Gramer, S Gray, U Groselj, S C Grünert, D Haas, B Handoom, T B Harte, C Hendriksz, R S Heredia, J Hertecant, T Hoi-Yee Wu, A Inwood, S S Jamuar, P Jesina, J J Jonsson, A Jovanovic, I Kern, S Kilavuz, I Knerr, D Kor, D Korycinska-Chaaban, M Kreile, B Kumru, B Lanpher, R Lapatto, C Lavigne, E Leao-Teles, V Leuzzi, N Longo, A Lopez-Uriarte, C M A Lubout, A MacDonald, E M Megdad, J Mitchell, F Mochel, P J Moreno-Lozano, A Morris, C F Moura de Souza, T Munoz, P I Nevalainen, M Oscarson, K Õunap, S Paci, G M Pastores, P L Pearl, F B Piazzon, J Pitt, G Poon, F Porta, N Presner, A A Rabaty, K Reinson, P Reismann, T Rink, J C Rocha, E Rodrigues, A G Saini, A Sanchez-Valle, J Sander, P Sarkhail, I V D Schwartz, R Sharma, B Sheng, K Siriwardena, S Sirrs, D R Sjarif, N Sondheimer, R Sparkes, N Specola, K M Stepien, I Szatmari, M Tchan, T Tkemaladze, C Tran, M G Valle, M Vela-Amieva, M L Verdaguer, S A Vergano, P Vermeersch, R Vulturar, M A E M Wagenmakers, N Weinhold, A B Williams, W G Wilson, D Zafeiriou, H Zhang, A Ziagaki, J Zolkowska

Affiliations

¹ Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.
² Dietmar Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.
³ Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases, and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
⁴ Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.
⁵ Central Laboratory of Biochemistry, University Hospital Ibn Sina of Rabat, Rabat, Morocco; Faculty of Pharmacy, University Euromed of Fez, Fez, Morocco.
⁶ Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Center, Cairo, Egypt.
⁷ Internal Medicine Department, University Hospital of Tours, UMR INSERM 1253 "iBrain", Tours, France.
⁸ Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: f.j.van.spronsen@umcg.nl.

PMID: 34474089
DOI: 10.1016/j.jpeds.2021.08.070

Free article

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Annemiek M J van Wegberg et al. J Pediatr. 2021 Dec.

Free article

. 2021 Dec:239:231-234.e2.

doi: 10.1016/j.jpeds.2021.08.070. Epub 2021 Aug 30.

Authors

Collaborators

Study Group on Missed PKU and Missed to Follow-Up:
K Ahring, F Al Mutairi, J B Arnoux, D Ballhausen, J Baruteau, L Bernstein, S Bijarnia-Mahay, F Boemer, A Bordugo, L Brodosi, S Brooks, H B Chew, K Chyz, M Coker, C Collingwood, V Cornejo, M L Couce, A Cozens, S Dahri, A M Das, C de Laet, J de Las Heras Montero, A de Vreugd, F G Debray, M Dercksen, M Descartes, L Diogo, E Drogari, H Eiroa, F T Eminoglu, G M Enns, F Eyskens, F Feillet, S Ford, L Franzson, P Freisinger, P Garcia, O Grafakou, G Gramer, S Gray, U Groselj, S C Grünert, D Haas, B Handoom, T B Harte, C Hendriksz, R S Heredia, J Hertecant, T Hoi-Yee Wu, A Inwood, S S Jamuar, P Jesina, J J Jonsson, A Jovanovic, I Kern, S Kilavuz, I Knerr, D Kor, D Korycinska-Chaaban, M Kreile, B Kumru, B Lanpher, R Lapatto, C Lavigne, E Leao-Teles, V Leuzzi, N Longo, A Lopez-Uriarte, C M A Lubout, A MacDonald, E M Megdad, J Mitchell, F Mochel, P J Moreno-Lozano, A Morris, C F Moura de Souza, T Munoz, P I Nevalainen, M Oscarson, K Õunap, S Paci, G M Pastores, P L Pearl, F B Piazzon, J Pitt, G Poon, F Porta, N Presner, A A Rabaty, K Reinson, P Reismann, T Rink, J C Rocha, E Rodrigues, A G Saini, A Sanchez-Valle, J Sander, P Sarkhail, I V D Schwartz, R Sharma, B Sheng, K Siriwardena, S Sirrs, D R Sjarif, N Sondheimer, R Sparkes, N Specola, K M Stepien, I Szatmari, M Tchan, T Tkemaladze, C Tran, M G Valle, M Vela-Amieva, M L Verdaguer, S A Vergano, P Vermeersch, R Vulturar, M A E M Wagenmakers, N Weinhold, A B Williams, W G Wilson, D Zafeiriou, H Zhang, A Ziagaki, J Zolkowska

Affiliations

¹ Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands.
² Dietmar Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.
³ Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases, and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
⁴ Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.
⁵ Central Laboratory of Biochemistry, University Hospital Ibn Sina of Rabat, Rabat, Morocco; Faculty of Pharmacy, University Euromed of Fez, Fez, Morocco.
⁶ Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Center, Cairo, Egypt.
⁷ Internal Medicine Department, University Hospital of Tours, UMR INSERM 1253 "iBrain", Tours, France.
⁸ Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, The Netherlands. Electronic address: f.j.van.spronsen@umcg.nl.

PMID: 34474089
DOI: 10.1016/j.jpeds.2021.08.070

Abstract

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.

Keywords: NBS; immigrant; late diagnosis; phenylketonuria; refugee.

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Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Collaborators

Affiliations

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

Authors

Collaborators

Affiliations

Abstract

Publication types

MeSH terms

LinkOut - more resources

Full Text Sources

Medical

Research Materials

Miscellaneous