1 in every 1,000 newborns has Inborn Errors of Metabolism (IEM) or other disorders detectable at birth by screening. IEM, one of the category of rare diseases. Inborn errors of metabolism often referred to as congenital metabolic diseases or inherited metabolic disorders 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.
Newborn screening tests can identify some of these disorders. And registered dietitians and other health care providers 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. 1 child out of 1,000 children is diagnosed with IEM.
Division of Genetics, Department of Pediatrics, AIIMS, & IEM Support Charitable Trust, Delhi, is organizing a Panel Discussion on Sat, Dec 15, 2018 at AIIMS with renowned 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 this rare disease. The Panel Discussion consists of Dr. Madhulika Kabra & Dr. Neerja Gupta of Division of Genetics, Department of Pediatrics, AIIMS, Dr. Seema Kapoor of Division of Genetics, Department of Pediatrics, LNJP hospital. MERD India Foundation, IEM Support Charitable Trust, etc. The event is supported by MERD India Foundation, Jaipur.
This initiative is being undertaken to ensure that every newborn has access to NBS, to establish and integrate a sustainable newborn screening within the public health care system and to ensure that all the health practitioners are aware of the advantages of NBS.