Inborn Errors of Metabolism

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.

Prevalence

Worldwide, the incidence of IEM is more than 1/1000. In India, diagnosis or new born screening is limited leading to many cases going undiagnosed. According to WHO figures, 5 million children die in the first month of life in developing countries and 4 million children are born with some congenital anomaly. Thousands of children die of no definable reason. Almost 27 - 30 % of these babies are now proved to be having some IEM disease. About 5 to 15 % of all sick neonates in NICU are expected to have some Inborn Error of Metabolism.

Examples of IEM conditions

• Maple syrup urine disease : characterised by the deficiency of certain enzymes required to break down amino acids - [Leucine, Isoleucine and Valine in the body.
• Homocystinuria : disorder of methionine metabolism
• Amino acid metabolic disorders

When To Suspect Metabolic Defect?

If your child presents with following signs and symptoms, seek immediate medical help.

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

To see the list of Medical centres across India for guidance, click here.

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.

Diet4life initiative of FSSAI

Food Safety and Standards Authority of India (FSSAI) has initiated “Diet4Life” to help people understand about metabolic disorders. It will provide a comprehensive platform to parents, Health care professionals and parent support groups to adopt the right approach towards Inborn Errors of metabolism (IEM) management. 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. 

Source : Diet4life