Screening of newborns or screening of parents during the pre-natal period can help detect inborn metabolic disorders in children that are “manageable” but whose late detection can cause complications or even turn fatal, doctors and genetic experts said at an awareness programme on Sunday.
Inborn error of metabolism (IEM) is a spectrum of diseases that can affect the normal metabolism in children, said doctors.
Dipanjana Datta, a genetic counsellor, said that IEM is a genetic disorder and is passed on from parents to children.
“Since this is a genetic disorder, both parents can undergo a screening test during the pre-conception stage or when they are planning a child. If they emerge as carriers, the treatment can begin in the pre-conception stage,” said Datta, who was one of speakers at Sunday’s programme.
If the parents do not undergo screening, then they should at least do a screening for their newborn baby.
“Early detection can help manage the disorder. But late detection when some outward signs start manifesting could be difficult. It can turn fatal,” said Datta.
Parents whose wards are being treated for IEM were present at the programme organised by MERD India Foundation, IEM Support Charitable Trust and Organisation for Rare Diseases India.
Several post-graduate trainee doctors were also present at the programme. Datta said that the trainee doctors were told about the need for the screening and what kind of clinical suspicion they should have to detect IEM in a newborn.
Mihir Sarkar, an associate professor of paediatrics at the Calcutta Medical College and Hospital, said that IEM can lead to accumulation of abnormal metabolic wastes in various organs. “IEM mainly affects brain and kidney, but it can also affect other organs. The diseases can lead to accumulation of abnormal wastes in the organs and disrupt the normal functioning of the organs,” said Sarkar.
He was not part of the awareness programme held on Sunday.
“In some countries, the screening tests are done routinely. If any of the individual diseases of IEM is considered, then the disease could be rare. But if all diseases in the IEM spectrum is considered, then it is not very rare either,” said Sarkar.