Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes

Priyanka Olety; Gundyadka Moideen Safwan; Rathika Damodara Shenoy

doi:10.1136/bcr-2021-248001

Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes

BMJ Case Rep. 2022 Jun 7;15(6):e248001. doi: 10.1136/bcr-2021-248001.

Authors

Priyanka Olety¹, Gundyadka Moideen Safwan², Rathika Damodara Shenoy¹

Affiliations

¹ Pediatrics, KS Hegde Medical Academy, Mangalore, Karnataka, India.
² Pediatrics, KS Hegde Medical Academy, Mangalore, Karnataka, India gmsafwan@nitte.edu.in.

Abstract

Inborn errors of metabolism constitute a differential diagnosis in infants presenting with encephalopathy in developing countries where expanded newborn screening is not a state health programme. Acute neurological presentation with encephalopathy is documented in paediatric COVID-19. The pandemic has also altered parents' healthcare-seeking behaviour, leading to delays in emergency care. We illustrate the challenges faced in diagnosing and managing an 18-month-old child who presented with acute metabolic crisis due to methylmalonic acidaemia on the background of the COVID-19 pandemic. We discuss the current global status of expanded newborn screening services for inborn error of metabolism and the impact of the pandemic on the healthcare of children.

Keywords: COVID-19; Congenital disorders.

Publication types

Case Reports

MeSH terms

Brain Diseases*
COVID-19*
Child
Humans
Infant
Infant, Newborn
Metabolism, Inborn Errors* / complications
Metabolism, Inborn Errors* / diagnosis
Neonatal Screening
Pandemics