Background: Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism leading to significant morbidity and mortality in the population. In most of the disorders, signs and symptoms arise due to accumulation of metabolites which are toxic or interfere with normal function or the effects of reduced ability to make essential compounds. The aim of this study was to determine the incidence of IEM in the healthy newborns in the population at a tertiary health care center in India.
Methods: Dried blood spot samples of 32,333 newborns babies were taken after 24 h of birth, on a Whatmann 903 S card, by heel prick method for a period of 6 months. Level of various metabolite was checked by LCMSMS (3200 MD QTrap), analysed by using R-4 Stork Algorithm.
Results: Five out of 32,333 samples were positive for IEM. Further confirmation with GCMS has found them to be cases of 2 maple syrup urine disease, 1 carnitine palmitoyl transferase-1 deficiency, and 1 case of citrullinemia and 1 case of tyrosinemia type 1.
Conclusions: We identified the incidence of IEM in the general population to be 1 in every 6,466 live births. Even this is higher than the normal incidence rate for the IEM, this can be explained by epigenetic factors, high degree of consanguinity. India is a large country with 110 million population, with 20.22 births occurring per 1,000 people in a year, so the incidence of IEM amounts to a very large population. Timely detection of IEM, along with clinical intervention might avert a large amount of morbidity and mortality. But the implementation of such a screening program with skilled workforce and clinicians will require a lot of planning & infrastructure and the cost effectiveness of such a program for a large population is yet to be determined.
