Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-09-20

AUTHORS

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, Thomas Opladen

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. More... »

PAGES

5529

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  • Journal

    TITLE

    Nature Communications

    ISSUE

    1

    VOLUME

    12

    Author Affiliations

  • University Children’s Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany
  • University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics, BC Children’s Hospital, Vancouver, BC, Canada
  • Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain
  • Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Metabolism, Ankara, Turkey
  • Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy
  • First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece
  • UCSD Departments of Neuroscience and Pediatrics; Rady Children’s Hospital Division of Neurology, Rady Children’s Institute for Genomic Medicine, San Diego, CA, USA
  • Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children 555 University Avenue Toronto, Toronto, ON, Canada
  • Department of Pediatrics and Adolescent Medicine, The Hong Kong Childrenś Hospital, Hong Kong, Hong Kong
  • Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA
  • First Department of Pediatrics Aristotle University of Thessaloniki Egnatia St. 106, Thessaloniki, Greece
  • Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
  • Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital, London, UK
  • Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain
  • Childrenś Department Division of Child Neurology Oslo University Hospital Rikshospitalet Pb 4956 Nydalen, Oslo, Norway
  • Çukurova University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Adana, Turkey
  • Department of Pediatrics, Pediatric Neurology Unit, UZ Brussel VUB, Brussels, Belgium
  • Department of Pediatrics, University of Alberta Glenrose Rehabilitation Hospital, Edmonton, AB, Canada
  • Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria
  • Department of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy
  • Children’s Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova – Campus Biomedico Pietro d’Abano, Padova, Italy
  • Department of Pediatric Immunology, Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany
  • University Children’s Hospital Heidelberg, Dietmar-Hopp Metabolic Center, Heidelberg, Germany
  • Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41467-021-25515-5

    DOI

    http://dx.doi.org/10.1038/s41467-021-25515-5

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1141232711

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34545092


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    492 schema:name Çukurova University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Adana, Turkey
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