As compared to 90% of children in China, only 2% in India go through newborn screening, said Seema Kapoor, Division of Genetics in the Department of Paediatrics at Lok Nayak Hospital, at a panel discussion on Inborn Errors of Metabolism (IEM), held at AIIMS here.
Often referred to as congenital metabolic diseases or inherited metabolic disorders, IEMs are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in proteins that help breakdown food.
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In India the exact incidence is not known, but based on estimates in other countries, 3-4 babies out of 1000-sick newborns suffer from IEMs, which if not diagnosed timely and treated adequately, may be life threatening.
The panellists noted that newborn screening can identify some of these disorders. Metabolic physicians and registered dietitians and other healthcare providers can help manage these babies optimally, however, the Centre is yet to have a national mandatory screening program for newborn babies for IEM disorders.
Some States, however, have initiated newborn screening for a limited number of disorders.
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Doctors said that awareness is limited among the parents and the tests are expensive in private labs, and the medicines are not readily available for treatment.
The discussion was organised by the Division of Genetics in the Department of Paediatrics at Lok Nayak Hospital; AIIMS, Delhi; MERD INDIA Foundation, Jaipur; and IEM Support Charitable Trust, Delhi, in collaboration with Division of Genetics, Department of Paediatrics, MAMC.
Professor V.K. Paul, member NITI Aayog, urged doctors and social organisations to present a paper on Inborn Errors of Metabolism so that the government can include it in their upcoming health agenda.
“The health budget has increased from current 1.3% to 2.5% of GDP in the coming year, there is a lot of scope to reduce the burden of parents of IEM children,” he said.