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
- Pattern of Inheritance
- Classification of IEM
- When to suspect IEM?
- Clues on history for diagnosis
- Patterns of presentation
- Approach to diagnosis
- Investigations (first line, second line)
- Precautions for sample collection
- Aims for treatment
- Acute management ( shock, seizure, etc)
- Long-term management (Diet, ERT, Cofactor replacement)
V. Thrishi Sagna (She/Her)| DNB PediatricsThrishi has completed pediatric residency from Indraprastha Apollo, New Delhi.