About Inborn Errors of Metabolism

Inherited metabolic disorders (IMD) or IEMs are caused by a defect in the enzymes or their co-factors due to gene mutation or gene deletions that alter the metabolism of protein, carbohydrate, or fat. Inborn errors of metabolism (IEM) are assuming significance in clinical practice due to it’s severe manifestations in neonatal period. The diagnosis of IEM needs to be established quickly in order to prevent death or permanent neurological squeal and to initiate proper life saving therapy without delay.

When To Suspect Metabolic Defect?

Since children born with genetic defects are on rise in India, Project “Diet 4 life” aims to make general public aware of some basic signs and symptoms of IEM so that parents can immediately seek help from their nearest Medical centre and initiate life saving medical and nutrition intervention. (See the list of Medical centres across India).

If your child presents with following signs and symptoms, seek immediate medical help from the listed medical centres:

  • Poor feeding, vomiting, failure to thrive, lethargy
  • Developmental delay, loss of milestones
  • Decompensation due to intercurrent infection

Disclaimer: Presence of one or more of the above symptom does not confirm any genetic defect in your child till specific diagnostic tests are done. These signs are listed only to alert the parents to visit the nearest medical centres as soon as possible.