Doctors in the national capital have pitched for mandatory newborn screening (NBS) in the country stating Inborn Errors of Metabolism (IEM), often referred to as congenital metabolic diseases or inherited metabolic disorders, can be cured if diagnosed early.
Doctors in the national capital have pitched for mandatory newborn screening (NBS) in the country stating Inborn Errors of Metabolism (IEM), often referred to as congenital metabolic diseases or inherited metabolic disorders, can be cured if diagnosed early. Experts said early diagnosis can help prevent brain damage. There is also a need for more awareness on IEM among parents, they said.
As compared to 90 per cent of children in China who go through newborn screening, the number is just 2 per cent in India, Dr Seema Kapoor, Division of Genetics in the Department of Paediatrics at Lok Nayak Hospital, said at a panel discussion on IEM, held at AIIMS recently. IEM is a rare genetic (inherited) disorder in which the body cannot properly turn food into energy. The disorder is usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.
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, said Dr Kapoor. Dr Madhulika Kabra, Professor, Division of Genetics, Department of Pediatrics at AIIMS said that newborn screening can identify some of these disorders.
Metabolic physicians and registered dietitians and other health care providers can help to manage these babies optimally. However, the Government of India is yet to have a national mandatory screening program for newborn babies for IEM disorders but some of the state governments have initiated NBS for limited number of disorders.
“The awareness is limited among the parents as well, moreover, the tests are expensive in private labs and the medicines are not readily available for treatment,” she said. The panel discussion was organised by Division of Genetics in the Department of Pediatrics at AIIMS, New Delhi, MERD INDIA Foundation, Jaipur and IEM Support Charitable Trust, Delhi, in collaboration with Division of Genetics, Department of Pediatrics, MAMC recently.
Professor VK Paul, member NITI Aayog and former HOD of paediatrics at AIIMS, urged the doctors community and social organizations to present a paper on IEM so that the government can include in their coming health agenda. “The health budget has increased from current 1.3 to 2.5 pc of the GDP in the coming year, there’s a lot of scope to reduce the burden of parents of IEM children,” he said. He also emphasized that government is committed to support this cause.
Dr IC Verma, also known as father of genetics in India, emphasized on the need of duty-free import of special diets for the IEM children. As these diets are required lifelong and are expensive and not within the reach of the common man, the government should consider subsidizing these special diets, Verma said. Social Organizations such as MERD India & IEM Support Charitable Trust have also unveiled a website being developed to create awareness about IEM and provide information and support to the parents.