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

Description

A comprehensive overview defining Inborn Errors of Metabolism (IEM) as a complex group of rare genetic disorders resulting from defects in the metabolism of carbohydrates, fats, or proteins due to enzyme deficiencies. It highlights the diagnostic challenges, emphasizing that IEM symptoms often mimic other common illnesses in neonates, and details critical clinical signs like neurological impairment, unexplained vomiting, and metabolic acidosis.