Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Kuseyri Hübschmann, Oya (University Children's Hospital Heidelberg)
Horvath, Gabriella (University of British Columbia)
Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Yıldız, Yılmaz (Hacettepe University (Ankara, Turquia))
Mastrangelo, Mario (Università degli Studi di Roma "La Sapienza")
Pons, Roser (University of Athens)
Friedman, Jennifer (Rady Children's Institute for Genomic Medicine (San Diego, Estats Units d'Amèrica))
Mercimek-Andrews, Saadet (University of Toronto)
Wong, Suet-Na (The Hong Kong Children's Hospital)
Pearson, Toni S. (Washington University School of Medicine)
Kulhánek, Jan (Charles University and General University Hospital in Prague)
Kurian, Manju A. (Great Ormond Street Hospital (Londres, Regne Unit))
López Laso, Eduardo (Hospital Universitario Reina Sofía (Còrdova, Espanya))
Wassenberg, Tessa (Radboud University Medical Center (Nijmegen, Països Baixos))
Goez, Helly (University of Alberta Glenrose Rehabilitation Hospital)
Scholl-Bürgi, Sabine (Medical University of Innsbruck)
Porta, Francesco (Azienda Ospedaliero Universitaria Città della Salute e della Scienza (Torí, Itàlia))
Honzík, Tomáš (Charles University and General University Hospital in Prague)
Burlina, Alberto (Azienda Ospedaliera Universitaria di Padova)
Sivri, H Serap (Hacettepe University (Ankara, Turquia))
Leuzzi, Vincenzo (Università degli Studi di Roma "La Sapienza")
Hoffmann, Georg F. (University Children's Hospital Heidelberg)
Jeltsch, Kathrin (University Children's Hospital Heidelberg)
Garbade, Sven F. (University Children's Hospital Heidelberg)
García-Cazorla, Angels (Institut de Recerca Sant Joan de Déu)
Opladen, Thomas (University Children's Hospital Heidelberg)
Zafeiriou, Dimitrios I. (University of Thessaloniki (Grècia))
Kılavuz, Sebile (Çukurova University (Adana, Turquia))
Santer, René (University Medical Center Hamburg-Eppendorf)
Hübschmann, Daniel (Heidelberg University Hospital (Alemanya))
Universitat Autònoma de Barcelona. Departament de Medicina

Data:	2021
Resum:	Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical presentation at disease onset as well as diagnostic approaches of 275 patients from the registry of the International Working Group on Neurotransmitter related Disorders. The results reveal an increased rate of prematurity, a high risk for being small for gestational age and for congenital microcephaly in some disorders. Age at diagnosis and the diagnostic delay are influenced by the diagnostic methods applied and by disease-specific symptoms. The timepoint of investigation was also a significant factor: delay to diagnosis has decreased in recent years, possibly due to novel diagnostic approaches or raised awareness. Although each disorder has a specific biochemical pattern, we observed confounding exceptions to the rule. The data provide comprehensive insights into the phenotypic spectrum of neurotransmitter disorders. Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42 countries, and highlight an evolving phenotypic spectrum of this disease group and factors influencing diagnostic processes.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Metabolic disorders ; Movement disorders ; Paediatric neurological disorders ; Paediatric research
Publicat a:	Nature communications, Vol. 12 (September 2021) , art. 5529, ISSN 2041-1723

DOI: 10.1038/s41467-021-25515-5
PMID: 34545092

15 p, 880.2 KB

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Documents de recerca > Documents dels grups de recerca de la UAB > Centres i grups de recerca (producció científica) > Ciències de la salut i biociències > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
Articles > Articles de recerca
Articles > Articles publicats