Highlights • Newborns and adolescents with inborn errors of metabolism (IEM) may appear normal but can succumb to serious health conditions. 1 • IEMs such as Phenylketonuria, Cystic Fibrosis, Galactosemia, and Biotinidase deficiency are part of newborn screening however rarer conditions are not part of routine screening. 1 • This article briefly discusses the IEMs and their detection by newborn screening. Introduction of IEM IEM is a collection of biochemical disorders that appear due to mutation in genes responsible for carrying out various metabolic pathways.
IEM generally manifests within 24–48 h after neonate's birth and consists of ~5-15% of the total births in India. IEM leads to neurological disorders like mental retardation, vascular and ocular complications, learning disabilities, and even death. IEM, if left ignored, undiagnosed, or untreated, leads to serious consequences…
