Times of India
23, February 2010
By Pratibha Masand
Mumbai, India

When five–year–old Sayali was brought to KEM Hospital, she had a high level of mental retardation, got frequent fits, had a small head and fair hair. It was the fair hair that made the doctors suspicious that she might have phenylketonuria, a metabolic disorder, for which the treatment should have started when Sayali began to consume food.

“In phenylketonuria, the levels of phenylalanine, a type of amino acid increases in the blood. The only way to treat this disorder is to reduce the its amount in the diet to a minimum. Sayali’s disorder had reached such levels that treatment did not bring much improvement in the course of a year. Brain damage could have been prevented with timely detection,” said Dr Mamta Muranjan, associate professor of paediatrics at KEM Hospital.

Phenylketonuria is only one of 50 metabolic disorders. But the good news is more and more expecting couples are being counselled about a ‘newborn screening test,’ which can detect any of these disorders in a new–born who is more than 24 hours old. Forum Shinde (27) was relieved after her child tested negative for any of the disorders.

“The disorders are common in communities where marriages between blood relations are the norm and the dormant genes of the parents are responsible for the condition,” added gynaecologist Dr Saurabh Dani.

There are a couple of labs in India, like Neo Gen labs in Bangalore, which conduct the tests. “We get around 2,000 samples. Most come from Goa where the government has made testing mandatory,” said Nihal George, senior manager of Neo Gen, adding that it takes them 24 hours to give the reports and it costs around Rs 4,000 per child. Dr Muranjan says that new–born screening should be made mandatory everywhere.

Medical Facts

• In phenylketonuria, the levels of phenylalanine, a type of amino acid increases in the blood. The only way to treat this disorder is to reduce the its amount in the diet to a minimum
• The disorders are common in communities where marriages between blood relations are the norm and the dormant genes of the parents are responsible for the condition
• Expecting couples are being counselled about a ‘new–born screening test,’ which can detect any of these disorders in a new–born who is more than 24 hours old