Nature Communications (Sep 2021)
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
- Oya Kuseyri Hübschmann,
- Gabriella Horvath,
- Elisenda Cortès-Saladelafont,
- Yılmaz Yıldız,
- Mario Mastrangelo,
- Roser Pons,
- Jennifer Friedman,
- Saadet Mercimek-Andrews,
- Suet-Na Wong,
- Toni S. Pearson,
- Dimitrios I. Zafeiriou,
- Jan Kulhánek,
- Manju A. Kurian,
- Eduardo López-Laso,
- Mari Oppebøen,
- Sebile Kılavuz,
- Tessa Wassenberg,
- Helly Goez,
- Sabine Scholl-Bürgi,
- Francesco Porta,
- Tomáš Honzík,
- René Santer,
- Alberto Burlina,
- H. Serap Sivri,
- Vincenzo Leuzzi,
- Georg F. Hoffmann,
- Kathrin Jeltsch,
- Daniel Hübschmann,
- Sven F. Garbade,
- iNTD Registry Study Group,
- Angeles García-Cazorla,
- Thomas Opladen
Affiliations
- Oya Kuseyri Hübschmann
- University Children’s Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders
- Gabriella Horvath
- University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics, BC Children’s Hospital
- Elisenda Cortès-Saladelafont
- Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII
- Yılmaz Yıldız
- Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Metabolism
- Mario Mastrangelo
- Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza
- Roser Pons
- First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital
- Jennifer Friedman
- UCSD Departments of Neuroscience and Pediatrics; Rady Children’s Hospital Division of Neurology, Rady Children’s Institute for Genomic Medicine
- Saadet Mercimek-Andrews
- Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children 555 University Avenue Toronto
- Suet-Na Wong
- Department of Pediatrics and Adolescent Medicine, The Hong Kong Childrenś Hospital
- Toni S. Pearson
- Department of Neurology, Washington University School of Medicine
- Dimitrios I. Zafeiriou
- First Department of Pediatrics Aristotle University of Thessaloniki Egnatia St. 106
- Jan Kulhánek
- Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague
- Manju A. Kurian
- Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital
- Eduardo López-Laso
- Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER
- Mari Oppebøen
- Childrenś Department Division of Child Neurology Oslo University Hospital Rikshospitalet Pb 4956 Nydalen
- Sebile Kılavuz
- Çukurova University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition
- Tessa Wassenberg
- Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center
- Helly Goez
- Department of Pediatrics, University of Alberta Glenrose Rehabilitation Hospital
- Sabine Scholl-Bürgi
- Clinic for Pediatrics I, Medical University of Innsbruck
- Francesco Porta
- Department of Pediatrics, AOU Città della Salute e della Scienza
- Tomáš Honzík
- Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague
- René Santer
- Children’s Hospital, University Medical Center Hamburg-Eppendorf
- Alberto Burlina
- U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova – Campus Biomedico Pietro d’Abano
- H. Serap Sivri
- Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Metabolism
- Vincenzo Leuzzi
- Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza
- Georg F. Hoffmann
- University Children’s Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders
- Kathrin Jeltsch
- University Children’s Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders
- Daniel Hübschmann
- German Cancer Consortium (DKTK)
- Sven F. Garbade
- University Children’s Hospital Heidelberg, Dietmar-Hopp Metabolic Center
- iNTD Registry Study Group
- Angeles García-Cazorla
- Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII
- Thomas Opladen
- University Children’s Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders
- DOI
- https://doi.org/10.1038/s41467-021-25515-5
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 15
Abstract
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.
