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In Inborn Errors of Metabolism(IEM), the defective gene is passed from the parents to the child in this case the parents are just carrier, hence the symptoms of IEM wont be seen in the parents. Thus Early diagnosis of IEM is recommended where in the disorder is picked up at its earliest after 48hrs of birth and treatment is started.

This disorders is not 100% curable but managed to prevent any irreversible damage to the child. Treatment usually last lifelong and correct growth of the child is monitored at all stages by specialists.

Specialized Doctors will treat such children with recommended changes in diet and supplements as well as therapy depending on the disorder diagnosed.

Now-a-days many advance technologies help in diagnosing IEM which covers more than 100 metabolic disorders. Alternatives to painful blood spot tests are available in the form of Urine test by GC/MS which accurately diagnoses these disorders.

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14y ago

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