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Newborns at risk of Inborn Errors of Metabolism
It’s rare genetic disorders in which body can’t properly turn food into energy
Updated : Dec 15, 2018, 06:25 AM IST
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One in every 1,000 newborns has Inborn Errors of Metabolism (IEM) or other disorders detectable at birth by screening in India, revealed a survey conducted by a charitable foundation with support from doctors from All India Institute of Medical Sciences.
IEM, one of the categories of rare diseases, are Inborn errors of metabolism often referred to as congenital metabolic diseases or inherited metabolic disorders. These are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.
"A food product that is not broken down into energy can build up in the body and cause a wide range of symptoms. Several inborn errors of metabolism cause developmental delays or other medical problems if they are not controlled. There are many different types of inborn errors of metabolism. A few of them are Fructose intolerance, Galactosemia, Maple sugar urine disease (MSUD), Phenylketonuria (PKU), etc," said Vikas Bhatia, Founder, Metabolic Errors and Rare Diseases organization of India (MERD).
Newborn screening tests can identify some of these disorders and registered dieticians can help create a diet that is right for each specific disorder. However, the Government of India is yet to have a mandatory screening program for newborn babies for IEM disorders. The awareness is limited among the parents as well, moreover, the tests are expensive and the medicines are not readily available for treatment.
Division of Genetics, Department of Pediatrics, AIIMS, and IEM Support Charitable Trust, Delhi, is organizing a Panel Discussion on Sat, Dec 15, 2018 at AIIMS with doctors and social organizations with an objective to create awareness about IEM and various steps required to be initiated for prevention, early diagnosis as well as cure of the rare disease. The Panel Discussion consists of Dr Madhulika Kabra and Dr Neerja Gupta of Division of Genetics, Department of Pediatrics, AIIMS.
EXPENSIVE TESTS
- Government of India is yet to have a mandatory screening program for newborn babies for IEM disorders
- The awareness is limited among the parents as well, moreover, the tests are expensive and the medicines are not readily available for treatment.
