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The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

Elmonem MA 1 , Belanger-Quintana A 2 , Bordugo A 3 , Boruah R 4 , Cortès-Saladelafont E 5 , Endrakanti M 6 Show all authors , Giraldo P 7 , Grünert SC 8 , Gupta N 6 , Kabra M 6 , Knerr I 4 , Krämer J 9 , Kuster A 10 , Levtchenko E 11 , Ngu LH 12 , Rovira-Remisa MM 5 , Sass JO 13 , Sykut-Cegielska J 14 , Tummolo A 15 , van den Heuvel LP 16

Affiliations 

  • 1 Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt; Inherited metabolic disease unit (IMDU), Cairo University Children's Hospital, Cairo, Egypt. Electronic address: mohamed.abdelmonem@kasralainy.edu.eg
  • 2 Unidad de Enfermedades Metabolicas, Hospital Ramon y Cajal, Madrid, Spain
  • 3 Inherited Metabolic Disease Unit and Regional Newborn Screening Centre, Department of Child and Woman Health, Azienda Ospedaliera Università Integrata, Verona, Italy
  • 4 National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, Dublin, Ireland
  • 5 Unit of Inborn Errors of Metabolism and Neuropediatrics, Pediatric Department, Hospital Germans Trias i Pujol, Badalona, Spain
  • 6 Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India
  • 7 Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain
  • 8 Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center- University of Freiburg, Faculty of Medicine, Freiburg, Germany
  • 9 Division of Pediatric Neurology and Inborn Errors of Metabolism, Children's Hospital, University of Ulm, Ulm, Germany
  • 10 Department of Neurometabolism, University Hospital of Nantes, France
  • 11 Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium
  • 12 Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia
  • 13 Research Group Inborn Errors of Metabolism, Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein-Sieg University of Applied Sciences, Rheinbach, Germany
  • 14 Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland
  • 15 Unit of Metabolic and Genetic Disorders, Children Hospital Giovanni XXIII, Bari, Italy
  • 16 Translational Metabolic laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands
Mol Genet Metab, 2020 11;131(3):285-288.
PMID: 33004274 DOI: 10.1016/j.ymgme.2020.09.004

Abstract

Quantitative estimates for the global impact of COVID-19 on the diagnosis and management of patients with inborn errors of metabolism (IEM) are lacking. We collected relevant data from 16 specialized medical centers treating IEM patients in Europe, Asia and Africa. The median decline of reported IEM related services in March 1st-May 31st 2020 compared to the same period in 2019 were as high as 60-80% with a profound impact on patient management and care for this vulnerable patient group. More representative data along with outcome data and guidelines for managing IEM disorders under such extraordinary circumstances are needed.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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