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


Journal

Molecular genetics and metabolism
ISSN: 1096-7206
Titre abrégé: Mol Genet Metab
Pays: United States
ID NLM: 9805456

Informations de publication

Date de publication:
11 2020
Historique:
received: 05 08 2020
revised: 21 09 2020
accepted: 22 09 2020
pubmed: 3 10 2020
medline: 29 12 2020
entrez: 2 10 2020
Statut: ppublish

Résumé

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.

Identifiants

pubmed: 33004274
pii: S1096-7192(20)30195-5
doi: 10.1016/j.ymgme.2020.09.004
pmc: PMC7518833
pii:
doi:

Types de publication

Journal Article Multicenter Study

Langues

eng

Sous-ensembles de citation

IM

Pagination

285-288

Informations de copyright

Copyright © 2020 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Declaration of Competing Interest The authors declare no conflict of interest regarding the current study.

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Auteurs

Mohamed A Elmonem (MA)

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.

Amaya Belanger-Quintana (A)

Unidad de Enfermedades Metabolicas, Hospital Ramon y Cajal, Madrid, Spain.

Andrea Bordugo (A)

Inherited Metabolic Disease Unit and Regional Newborn Screening Centre, Department of Child and Woman Health, Azienda Ospedaliera Università Integrata, Verona, Italy.

Ritma Boruah (R)

National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, Dublin, Ireland.

Elisenda Cortès-Saladelafont (E)

Unit of Inborn Errors of Metabolism and Neuropediatrics, Pediatric Department, Hospital Germans Trias i Pujol, Badalona, Spain.

Mounika Endrakanti (M)

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Pilar Giraldo (P)

Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales (FEETEG), Zaragoza, Spain.

Sarah Catharina Grünert (SC)

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center- University of Freiburg, Faculty of Medicine, Freiburg, Germany.

Neerja Gupta (N)

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Madhulika Kabra (M)

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

Ina Knerr (I)

National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, Dublin, Ireland.

Johannes Krämer (J)

Division of Pediatric Neurology and Inborn Errors of Metabolism, Children's Hospital, University of Ulm, Ulm, Germany.

Alice Kuster (A)

Department of Neurometabolism, University Hospital of Nantes, France.

Elena Levtchenko (E)

Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.

Lock-Hock Ngu (LH)

Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.

M Mar Rovira-Remisa (MM)

Unit of Inborn Errors of Metabolism and Neuropediatrics, Pediatric Department, Hospital Germans Trias i Pujol, Badalona, Spain.

Jörn Oliver Sass (JO)

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.

Jolanta Sykut-Cegielska (J)

Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.

Albina Tummolo (A)

Unit of Metabolic and Genetic Disorders, Children Hospital Giovanni XXIII, Bari, Italy.

Lambertus P van den Heuvel (LP)

Translational Metabolic laboratory, Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands.

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