Sign In
  • ENG

Newborn Screening Awareness Month: Protect Little Ones From Inborn Errors Of Metabolism

Know everything about IEM (Inborn Errors Of Metabolism) by Dr Anupkumar Rawool.

Written by Tavishi Dogra |Published : September 27, 2022 7:30 PM IST

September is observed as the New Born Screening Awareness Month. Unfortunately, less than 5% of babies in India are screened for New Born Disorders. The concept of New Born Screening dates back to 1961 when Robert Guthrie introduced the Dried Blood Spot test to screen Phenylketonuria. The Wilson and Jungner Criteria (WHO, 1968) help countries decide on implementing the NBS programs. The disorder must be treatable for a screening test that diagnoses NBS disorders. Dr Anupkumar Rawool, Associate Director Clinical Genomics, SRL Diagnostics shares all about Inborn Errors Of Metabolism (IEM).

Metabolic Disorders

The technology to screen for metabolic disorders has come a long way since the 1960s. The introduction of ELISA, electrophoresis, HPLC (high-performance liquid chromatography) and LCMS (Liquid chromatography-mass spectrometry) have made it possible to screen more and more disorders. As a result, it is possible to screen for over 100+ genetic and metabolic disorders.

New Born Screening

New Born Screening is possibly the finest example of systematic, population-wide genetic testing. If done wisely, it could significantly improve the lives of thousands of affected children. Newborn testing can help identify disorders even before the onset of symptoms. Many countries have adopted newborn screening as part of their national healthcare policy, but India has yet to have a uniform federal newborn screening programme.

Also Read

More News

Inborn Errors Of Metabolism

Surprisingly, in India, a high incidence of 1:1000 for Inborn errors of Metabolism (IEM) is reported even with low screening levels. India is a diverse country with multiple ethnicities, traditions, societal practices and dietary habits differing from region to region. Therefore, in specific geographical and population pockets, it is essential to have region-wise studies that help understand the regional prevalence of IEM. In addition, the turnaround time and reporting for a newborn test take anywhere from 24 hours to 4 days. Therefore, treatment must be initiated promptly in some disorders to prevent irreversible damage.

New Born Screening Test

In India, New Born Screening test is done at cost by parents of newborns who are aware of such testing or when parents are counselled by their doctors for these tests. The most commonly screened disorders are Congenital Hypothyroidism, Hearing Loss, Phenylketonuria, G6PD (Glucose 6 Phosphatase Dehydrogenase Deficiency) and Congenital Adrenal Hyperplasia. While this is a good start, comprehensive screening of 50+ disorders is recommended, given the prevalence of these conditions by Mass spectrometry.

Tandem Mass Spectrometry

Tandem mass spectrometry (TMS) is a laboratory technique used to screen disorders of amino acid metabolism and organic acid metabolism. Using TMS, it is possible to screen for a wide array of diseases that includes PKU, MSUD, tyrosinemia, homocystinuria, arginine mix, methylmalonic academia (MMA), propionic academia (PA), isovaleric academia etc. These disorders present life-threatening episodes in a baby and can result in permanent neurological consequences that could be avoided if diagnosed and treatment instituted in time. The incidence of these disorders is unknown; however, an ICMR study indicated that MMA, GAI, NKH, UCDs, MSUD, and PA are the most common disorders in India.

Conclusion: Considering the enormous disease burden extrapolating from the vast Indian population, it is time the government adopts a national New Born Screening program and includes comprehensive counselling for parents to increase awareness of NBS.

Total Wellness is now just a click away.

Follow us on