PT  - JOURNAL ARTICLE
AU  - Priyanka Olety
AU  - Gundyadka Moideen Safwan
AU  - Rathika Damodara Shenoy
TI  - Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes
AID  - 10.1136/bcr-2021-248001
DP  - 2022 Jun 01
TA  - BMJ Case Reports
PG  - e248001
VI  - 15
IP  - 6
4099  - http://casereports.bmj.com/content/15/6/e248001.short
4100  - http://casereports.bmj.com/content/15/6/e248001.full
SO  - BMJ Case Reports2022 Jun 01; 15
AB  - 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.