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Though rare, if diagnosed early enough, Inborn Errors of Metabolism (IEM) can be cured quickly
Metabolic disorders are rare genetically determined disorders, affecting up to 1 in 1000 infants worldwide. More than 7000 Rare diseases have been reported globally and same is expected to be found in India. Genetic metabolic disorders contribute to about 10-15 per cent of them all. Although culturally we are a heterogeneous population and a melting pot of genetic diversity, our population is also known to indulge in consanguineous marriages and endogamy or marrying within communities, contributing somewhat to increasing the risk for acquiring Rare Diseases. One such rare group, commonly seen is a category of diseases called Inborn Errors of Metabolism (IEM).