Clinics in laboratory medicine
-
Inborn errors of metabolism (IEM) have a characteristic clinical presentation overlapping with infection and intoxication. Diagnostic modalities for IEM vary from biochemical to molecular methods including next-generation sequencing. ⋯ Prenatal diagnosis and newborn screening help to reduce the societal burden as well as the morbidity due to IEM. IEM occur in India, and the need of the time is to have large diagnostic and screening programs to dilute the gene pool.