Inborn errors of metabolism (2015) Walid Ali Ibrahim Al-Marwani

Description

An introductory guide defining Inborn Errors of Metabolism (IEM) as a complex and challenging group of rare genetic disorders caused by defects in metabolic enzymes, affecting carbohydrate, lipid, and protein processing. It emphasizes the difficulty of diagnosis and lists common clinical signs in newborns and infants, including neurological symptoms, poor feeding, unexplained vomiting, and high anion gap metabolic acidosis.