Inborn errors of metabolism: Review and data from a tertiary care center.

ABSTRACT

Inherited metabolic disorders are a heterogeneous group of genetic conditions mostly occurring in childhood. They are individually rare but collectively numerous, causing substantial morbidity and mortality. We have retrospectively reviewed a total of eight hundred and sixty nine cases with different age groups that had been referred from several diagnostic centers and hospitals of India to the Department of Metabolism in Narayana Hrudayalaya, as cases suspected with inborn errors of metabolism. Advanced techniques applied were to diagnose the disorders of inborn errors of metabolism. Data analyzed indicates occurrence of several metabolic disorders in our population. The need to screen for an inborn error of metabolism arises out of the fact that most cases take to irreversible effects as time progress. Emphasis has to be laid on early detection and prompt management, which could help in alleviating symptoms and preventing complications and consequent incapacitation.