How to approach inborn error of metabolism in children

This post outlines the approach to an inborn error of metabolism (IEM)/metabolic disorders in children.

The following topics are covered

  1. Introduction
  2. Pattern of Inheritance
  3. Classification of IEM
  4. When to suspect IEM?
  5. Clues on history for diagnosis
  6. Patterns of presentation
  7. Approach to diagnosis
  8. Investigations (first line, second line)
  9. Precautions for sample collection
  10. Aims for treatment
  11. Acute management ( shock, seizure, etc)
  12. Long-term management (Diet, ERT, Cofactor replacement)



V. Thrishi Sagna (She/Her)| DNB Pediatrics

Thrishi has completed pediatric residency from Indraprastha Apollo, New Delhi.