How to approach inborn error of metabolism in children

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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)

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

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

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