Incidence of Inborn Errors of Metabolism in Sick Neonates in a Tertiary Care Hospital in Developing Country

Abstract

The term “inborn errors of metabolism” (IEM), also referred to as congenital metabolic diseases, is described as the hereditary deficiency of enzymes or alteration in protein structure and function resulting in metabolic derangement that may have pathologic consequences [1]. These disorders result in substrate accumulation causing minor to severe neurological and psychiatric manifestations resulting in lifelong disability or death [2].