Eminently manageable conditions if detected early, say experts

The Health Department will launch, probably by November, mandatory screening of newborn babies for four metabolic disorders which can be treated effectively if detected early.

“Data are scarce on the prevalence of metabolic disorders among children. We have, in consultation with paediatricians and endocrinologists, zeroed in on the four disorders, which, if undetected and untreated, can have irreversible consequences for children. We will screen babies for congenital hypothyroidism, phenylketonuria (PKU), congenital adrenal hyperplasia, and glucose 6 phosphate dehydrogenase (G6PD) deficiency,” a senior Health Department official says.

The idea is to launch the screening programme and conduct a prevalence study, based on which the programme can be expanded to include or exclude disorders, he says. The screening will be through a simple blood test, done before the mother and baby are discharged from the hospital. Four drops of blood will be collected from a heel prick on a special kind of filter paper, which will be dried and kept refrigerated, to be sent for testing using the Elisa method.

“The public health laboratories in Thiruvananthapuram, Ernakulam, Kozhikode, and Kannur will handle the samples. The results can be mailed or faxed to the respective hospitals, which will have to arrange for the follow-up and treatment of the infants when they are brought back for immunisation," an official says.

“Approximately 1.5 lakh infants are born in government hospitals annually. These screening tests can be costly and the State is making a long-term investment by ensuring that these children are mandatorily screened for four manageable conditions.”

High prevalence

Data suggest a very high prevalence of congenital hypothyroidism in the country (one in 2,640 infants, while the world average is one in 3800, says an article in the July 2011 issue of Indian Journal of Endocrinology and Metabolism). Low levels of thyroid hormone can result in irreversible brain damage in infants.

PKU is a genetic disorder in which the body cannot process part of a protein called phenylalanine (Phe), which is present in almost all types of food. If the Phe levels become high, brain damage and severe mental retardation will be the results. The disorder may present later as autism or epilepsy, but can be easily prevented through early dietary regulation.

Congenital adrenal hyperplasia is a genetic condition which affects the ability of adrenal glands to produce certain vital hormones such as cortisol or testosterone. This can result in abnormal growth conditions, especially affecting the development of genitals.

G6PD is an enzyme required for the normal functioning of red blood cells, its deficiency resulting in haemolytic anaemia when exposed to certain drugs and presenting as drug reactions.

As much as Rs.44 lakh from State Plan funds and Rs.60 lakh from the National Rural Health Mission has been earmarked for the programme.