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

Mohamed A. Elmonem; Amaya Belanger-Quintana; Andrea Bordugo; Ritma Boruah; Elisenda Cortès-Saladelafont; Mounika Endrakanti; Pilar Giraldo; Sarah Catharina Grünert; Neerja Gupta; Madhulika Kabra; Ina Knerr; Johannes Krämer; Alice Kuster; Elena Levtchenko; Lock Hock Ngu; M. Mar Rovira-Remisa; Jörn Oliver Sass; Jolanta Sykut-Cegielska; Albina Tummolo; Lambertus P. van den Heuvel

doi:10.1016/j.ymgme.2020.09.004

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

Mohamed A. Elmonem^*
, Amaya Belanger-Quintana
, Andrea Bordugo
, Ritma Boruah
, Elisenda Cortès-Saladelafont
, Mounika Endrakanti
, Pilar Giraldo
, Sarah Catharina Grünert
, Neerja Gupta
, Madhulika Kabra
, Ina Knerr
, Johannes Krämer
, Alice Kuster
, Elena Levtchenko
, Lock Hock Ngu
, M. Mar Rovira-Remisa
, Jörn Oliver Sass
, Jolanta Sykut-Cegielska
, Albina Tummolo
, Lambertus P. van den Heuvel

^*Corresponding author for this work

Research output: Contribution to journal › Comment/Letter to the editor › Academic

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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.

Original language	English
Pages (from-to)	285-288
Number of pages	4
Journal	Molecular genetics and metabolism
Volume	131
Issue number	3
DOIs	https://doi.org/10.1016/j.ymgme.2020.09.004
Publication status	Published - Nov 2020
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Health care policy
Inherited metabolic disorders
SARS-COV-2 virus
Survey
Telemedicine

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Elmonem, M. A., Belanger-Quintana, A., Bordugo, A., Boruah, R., Cortès-Saladelafont, E., Endrakanti, M., Giraldo, P., Grünert, S. C., Gupta, N., Kabra, M., Knerr, I., Krämer, J., Kuster, A., Levtchenko, E., Ngu, L. H., Rovira-Remisa, M. M., Sass, J. O., Sykut-Cegielska, J., Tummolo, A., & van den Heuvel, L. P. (2020). The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective. Molecular genetics and metabolism, 131(3), 285-288. https://doi.org/10.1016/j.ymgme.2020.09.004

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

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.",

keywords = "Health care policy, Inherited metabolic disorders, SARS-COV-2 virus, Survey, Telemedicine",

author = "Elmonem, \{Mohamed A.\} and Amaya Belanger-Quintana and Andrea Bordugo and Ritma Boruah and Elisenda Cort{\`e}s-Saladelafont and Mounika Endrakanti and Pilar Giraldo and Gr{\"u}nert, \{Sarah Catharina\} and Neerja Gupta and Madhulika Kabra and Ina Knerr and Johannes Kr{\"a}mer and Alice Kuster and Elena Levtchenko and Ngu, \{Lock Hock\} and Rovira-Remisa, \{M. Mar\} and Sass, \{J{\"o}rn Oliver\} and Jolanta Sykut-Cegielska and Albina Tummolo and \{van den Heuvel\}, \{Lambertus P.\}",

note = "Publisher Copyright: {\textcopyright} 2020 Elsevier Inc.",

year = "2020",

month = nov,

doi = "10.1016/j.ymgme.2020.09.004",

language = "English",

volume = "131",

pages = "285--288",

journal = "Molecular genetics and metabolism",

issn = "1096-7192",

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Elmonem, MA, Belanger-Quintana, A, Bordugo, A, Boruah, R, Cortès-Saladelafont, E, Endrakanti, M, Giraldo, P, Grünert, SC, Gupta, N, Kabra, M, Knerr, I, Krämer, J, Kuster, A, Levtchenko, E, Ngu, LH, Rovira-Remisa, MM, Sass, JO, Sykut-Cegielska, J, Tummolo, A & van den Heuvel, LP 2020, 'The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective', Molecular genetics and metabolism, vol. 131, no. 3, pp. 285-288. https://doi.org/10.1016/j.ymgme.2020.09.004

TY - JOUR

T1 - The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism

T2 - A global perspective

AU - Elmonem, Mohamed A.

AU - Belanger-Quintana, Amaya

AU - Bordugo, Andrea

AU - Boruah, Ritma

AU - Cortès-Saladelafont, Elisenda

AU - Endrakanti, Mounika

AU - Giraldo, Pilar

AU - Grünert, Sarah Catharina

AU - Gupta, Neerja

AU - Kabra, Madhulika

AU - Knerr, Ina

AU - Krämer, Johannes

AU - Kuster, Alice

AU - Levtchenko, Elena

AU - Ngu, Lock Hock

AU - Rovira-Remisa, M. Mar

AU - Sass, Jörn Oliver

AU - Sykut-Cegielska, Jolanta

AU - Tummolo, Albina

AU - van den Heuvel, Lambertus P.

PY - 2020/11

Y1 - 2020/11

N2 - 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.

AB - 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.

KW - Health care policy

KW - Inherited metabolic disorders

KW - SARS-COV-2 virus

KW - Survey

KW - Telemedicine

UR - https://www.scopus.com/pages/publications/85091688588

U2 - 10.1016/j.ymgme.2020.09.004

DO - 10.1016/j.ymgme.2020.09.004

M3 - Comment/Letter to the editor

C2 - 33004274

SN - 1096-7192

VL - 131

SP - 285

EP - 288

JO - Molecular genetics and metabolism

JF - Molecular genetics and metabolism

IS - 3

ER -

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

Abstract

UN SDGs

Keywords

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