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, Angeles García-Cazorla and Thomas Opladen ()
Additional contact information
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: Università degli Studi di Roma La Sapienza
Roser Pons: First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital
Jennifer Friedman: Rady Children’s Institute for Genomic Medicine
Saadet Mercimek-Andrews: University of Toronto, The Hospital for Sick Children 555 University Avenue Toronto
Suet-Na Wong: The Hong Kong Childrenś Hospital
Toni S. Pearson: Washington University School of Medicine
Dimitrios I. Zafeiriou: First Department of Pediatrics Aristotle University of Thessaloniki Egnatia St. 106
Jan Kulhánek: Charles University and General University Hospital in Prague
Manju A. Kurian: Great Ormond Street Hospital
Eduardo López-Laso: 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: Radboud University Medical Center
Helly Goez: University of Alberta Glenrose Rehabilitation Hospital
Sabine Scholl-Bürgi: Medical University of Innsbruck
Francesco Porta: AOU Città della Salute e della Scienza
Tomáš Honzík: Charles University and General University Hospital in Prague
René Santer: University Medical Center Hamburg-Eppendorf
Alberto Burlina: 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: 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
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

Nature Communications, 2021, vol. 12, issue 1, 1-15

Abstract: Abstract 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.

Date: 2021
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DOI: 10.1038/s41467-021-25515-5

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