Mumbai: Nearly 12% children in Maharashtra have been diagnosed with life-threatening metabolism disorders, according to the State Health Department. As per available data, between April and December last year, blood samples of more than 20,000 children were tested and 2,398 returned positive for metabolism disorders.
Aim to detect inborn errors of metabolism (IEM) in newborns
This initiative was undertaken with the aim of detecting inborn errors of metabolism (IEM) in newborns. Senior health officials said there was a pressing need to undertake such an initiative considering IEM is a rare genetic disorder and focus must be trained on saving lives by starting early treatment.
Children suffering from IEM cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolise) parts of food.
Children’s health needs are on priority
A senior health official from the Director of Health Services said the initiative started in April 2020 but had to be discontinued due to the Covid-19 pandemic. However, when this initiative restarted there was no looking back considering children’s health needs to be prioritised to have a healthy nation in future.
A specialist said, “When a child is born, we conduct the first test immediately. Later, children, especially those requiring Neonatal Intensive Care Unit (NICU) admission, are tested for these ailments. IEM also constitutes approximately 15% of total admissions in NICUs annually. Meanwhile, the second test is undertaken after six months to see the progress of treatment.” However, birth defects account for 8% of total infant deaths in the state.
“These defects included congenital hypothyroidism (affecting thyroid gland), congenital adrenal hyperplasia (adrenal glands) and haemoglobinopathy (abnormal production and structure of haemoglobin molecule). They are treatable if diagnosed early,” the official said.
“Congenital hypothyroidism (CHT) is a condition resulting from an absent or under-developed thyroid gland (dysgenesis) or one that has developed but cannot make thyroid hormone because of a production line problem (dyshormonogenesis). Babies with CHT cannot produce enough thyroid hormone for the body’s needs,” official added.
Senior paediatrician said the initiative will help reach out to children in urgent need of medical intervention that can save lives. “If undiagnosed and untreated, these children are more likely to develop mental retardation, learning disabilities, autism, dyslexia or behavioural abnormalities that cause considerable financial and emotional burden on the families hoping to diagnose, treat, and manage these children,” he said.
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