Inborn Errors of Metabolism (2026) Waleed Ali Ibrahim Almarwany

Description

This publication provides an introduction to Inborn Errors of Metabolism (IEM). It discusses the genetic basis, focusing on enzyme and cofactor deficiencies leading to the accumulation of toxic compounds. The text highlights the extreme complexity of IEM and its importance in pediatrics, noting its collective prevalence. It details key warning signs in newborns, including poor feeding, unexplained vomiting, seizures, and direct hyperbilirubinemia.