An Overview of the Inborn Errors of Metabolism, Its Diagnosis, and Management

Biochemical anomalies impairing the body’s normal metabolism are referred to as inborn errors of metabolism (IEM). Early diagnosis and management can avert the otherwise harmful situation that may occur due to inborn errors. Generally, their incidence can vary from one case in every ۸۰۰ to ۲۵۰۰ cases. Thus, understanding the genetic defects behind the clinical presentation of the disease and their early management and treatment is the need of the hour. This review article gives an overall knowledge of the types of IEM, its pathophysiology, clinical presentation, diagnosis, and management of the disease.

کلیدواژه ها:

Inborn errors of metabolism ، Genetic mutations ، Enzyme ، Metabolic defects ، Targeted and untargeted metabolomics