CHENNAI: Tamil Nadu will soon screen its new-borns to find out children with inborn errors of metabolism, the first-of-its-kind effort in the State. The programme sponsored by the Union Health Minister will be implemented on a pilot basis at Vellore, which was chosen as one of the priority areas, officials told Express.
At present, there is no consolidated data available to know about inborn metabolism disorders burden in the country. Screening and early intervention would help increase quality of life of children with the condition, and even prevent death, said experts.
The Centre has released funds for the programme, and the State is in the process of buying equipment. “The programme will be implemented in Vellore district, one of the priority districts, on pilot basis,” said Dr J Kumutha, expert advisor for child health, Tamil Nadu.
Inborn errors of metabolism are a rare inherited genetic disorder in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific protein (enzymes) that help breakdown parts of food. As a result, children will either develop metabolism accumulations in the body or produce abnormal metabolism products.
This will result in condition like hyperthyroidism where the secretion of hormones is high. This will also affect brain development, and if treatment is delayed, even deaths can also occur, explained Dr Kumudha, retired professor of Neonatology department, Institute of Child Health, Egmore.
The screening programme will help learn more about the burden of this disorder in the country. Till now, there is no countrywide data on how many children are affected. “Though this screening has been going on for decades in Western countries, India is lagging behind,” said Dr Sujatha Jagadeesh, secretary, Indian Society of Inborn Errors of Metabolism.
Within 72 hours of birth, the blood sample of the children will be collected and send for testing. Based on the preliminary test results, a comprehensive tests will be done if required. This will help start treatment early and provide interventional treatment, Dr Kumudha added.