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
Introduction
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)
Power-point
Author

V. Thrishi Sagna (She/Her)| DNB Pediatrics
Thrishi has completed pediatric residency from Indraprastha Apollo, New Delhi.
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