Abstrakt: |
A recent report published by researchers at the Multidisciplinary Research Unit in Kolkata, India provides an overview of inborn errors of metabolism (IEM). IEM refers to biochemical anomalies that impair the body's normal metabolism. Early diagnosis and management of IEM are crucial in preventing harmful situations. This review article discusses the types of IEM, their pathophysiology, clinical presentation, diagnosis, and management. The research emphasizes the importance of understanding the genetic defects behind the disease and the need for early treatment. [Extracted from the article] |