A public interest litigation (PIL), filed at the Bombay High Court, which is scheduled for hearing on Monday has sought the court's directive for a formulation of policy on screenings of newborns in government hospitals for early detection of Inborn Errors of Metabolism (IEM). IEM is considered as rare genetic (inherited) disorder. Lack of addressing it on time can lead to development delays, medical problems, morbidity, and mortality. Early detection, diagnosis of IEM and timely intervention can prevent brain and organ damage, reduce disabilities, mental illness and improve long-term prognosis, according to the PIL.
There are five types of IEM — Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH), Galactosemia and Phenylketonuria (PKU), and Biotinidase Deficiency. "The first three are common in India. The best way is to screen newborns. IEM is an inherent disorder, which can also be caused due to marriages within the family (same bloodline). Dietary modifications can go a long way in tackling the issue, when detected earlier," said a senior pediatrician from a civic hospital. The senior pediatrician said that civic hospitals are looking to have such screenings in place.
The PIL, filed in the name of Joaquim Sebastian D'Costa, a resident of Thakurdwar, makes both the state and central government the party. Advocates Manmohan and Rajmohan Amonkar, along with Jacob , Kadantot, filed the PIL through petitioner Joaquim. The Amonkars say that they come from a family with a medical background and claimed to have taken upon the issue through the PIL after the government did not give satisfactory replies. "They may be claiming to start screening. But, despite representations and seeking information under RTI, there was no response. Private hospitals do this but government hospitals do not," said Rajmohan.
HEALTH CHECK
IEM affects the nervous system. Manifestations vary from acute life-threatening diseases to sub-acute progressive degenerative disorders. It can be treated through dietary modifications. Acute complications have to be managed.
Not common among Indians
Phenylketonuria: If checked on time, it can prevent brain damage and seizures.
Treatment of Biotinidase Deficiency (BTD) can lead to the prevention of hearing loss, optic atrophy, rashes, and alopecia. If not treated, it can lead to coma and eventual death.
