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Understanding Inborn Errors of Metabolism

March 17, 2019

Inborn errors of metabolism- IEM are a range of rare genetic diseases related to congenital disorders of metabolism.

Since IEM are related to metabolism they affect the ability of the body to convert food into energy. The body is unable to breakdown the consumed food into Aminoacids and other elements that can be utilized by the body.

When the body is not processing the food properly, it can result into production of harmful toxins that cause several other health problems. Inborn errors of metabolism are now also called congenital metabolic diseases or inherited metabolic diseases.

These are caused due to genetic mutations and result in deficiency of an enzyme that is needed for breaking down of food into necessary compounds in our body.

In India, MERD India Foundation is an organization that has been working to create awareness about IEM. NewzHook spoke with Vikas Bhatia, founder of the MERD Foundation.

We aim to spread awareness about these rare diseases so that more children can be screened on time and benefit through early intervention. We have found that lack of awareness is a major concern in India. The screening of new born babies should also be made compulsory across all the states in the country as early diagnoses can make a huge difference. Vikas Bhatia, MERD India Founder

"We are also raising demands for better medical facilities and insurance options for patients." He added.

Signs, Impacts and Diagnoses

The signs and severity of these diseases varies from person to person as they exist in various forms such as carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases, fatty acid ,oxidation and mitochondrial metabolism, Disorders of steroid metabolism and many more.

  • Growth problems, Developmental delays
  • Deafness, blindness
  • Dental, skin problems
  • Autism
  • Recurrent vomiting, diarrhea, abdominal pain
  • Seizures
  • Joint pain, muscle weakness, cramps
  • Mood swings, tantrums

These are some of the many other signs and impacts of IEM.

In new born babies, IEM can be detected through screening and physical examination. Early detection and proper diagnoses can help save lives and ensure that patients can lead a better life.

Some signs in babies include poor feeding, vomiting, diarrhea, dehydration, temperature instability, seizures, and consciousness related issues.

Gajanan Vithalrao Udar has a six year old son with IEM, he shared his insights with NewzHook.

"I would advise parents to get newborn screening done, as it is crucial. Parents should also go for genetic screening if they have a child with IEM and are planning for another. After years of struggle and care about his diet, my son is now able to lead a better life. I hope that through awarness more children can get the opportunity to cope with IEM.

Proper treatment, medications, awareness, diet changes and healthy lifestyle choices can help cope with the various impacts of the IEM diseases.

For more information about Merd India Foundation Click Here.

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