Inborn error of metabolism precipitated by COVID-19: challenges in the absence of an expanded newborn screening as state health programmes.
Priyanka OletyGundyadka Moideen SafwanRathika Damodara ShenoyPublished in: BMJ case reports (2022)
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.
Keyphrases
- healthcare
- coronavirus disease
- sars cov
- public health
- mental health
- liver failure
- respiratory failure
- emergency department
- respiratory syndrome coronavirus
- early onset
- health information
- drug induced
- case report
- young adults
- aortic dissection
- intensive care unit
- primary care
- hepatitis b virus
- patient safety
- risk assessment
- study protocol
- blood brain barrier
- climate change
- clinical trial
- social media
- palliative care
- affordable care act
- pain management
- extracorporeal membrane oxygenation
- acute respiratory distress syndrome
- mechanical ventilation