Abstract
Inborn errors of intermediary metabolism (IEiM) are complex diseases with high clinical heterogeneity, and some patients who have severe enzyme deficiencies or are subjected to stress (catabolism/i...
Highlights
Inborn errors of intermediary metabolism (IEiM) are a complex, heterogeneous group of genetic diseases
Newborns have a limited variety of responses to illness, and early signs and symptoms of IEiM are similar to the features of other, more common neonatal illnesses.[1]
Email: dravelaamieva@yahoo.com Journal of Inborn Errors of Metabolism & Screening admitted to 35 NICUs/EWs, comprising 23 in the Mexico City metropolitan area and 12 in other Mexican states
Summary
Inborn errors of intermediary metabolism (IEiM) are a complex, heterogeneous group of genetic diseases. Most of them have severe neonatal onset and are a primary cause of death in newborns and infants. Newborns have a limited variety of responses to illness, and early signs and symptoms of IEiM are similar to the features of other, more common neonatal illnesses.[1] Specific and effective treatments are available for many IEiM, and early therapeutic intervention can prevent the worsening of disease. Inborn errors of intermediary metabolism represent a challenge to physicians. Prompt suspicion of these diseases in newborns and the knowledge of initial diagnostic approaches can aid in the selection of appropriate biochemical tests and measures of emergency management.[3] very early clinical onset of the severe neonatal forms of some of these disorders represents a logistics challenge to screening programs for newborns. Neonates with severe IEiM often become seriously ill during the first few days of life and must be admitted to the neonatal intensive care units or emergency wards (NICUs/EWs).[4,5,6]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
