Title of article :
An Overview of the Inborn Errors of Metabolism, Its Diagnosis, and Management
Author/Authors :
Saha ، Avijit Multidisciplinary Research Unit, Department of Biochemistry - R.G. Kar Medical College Hospital , Aich ، Shritama Multidisciplinary Research Unit - R.G. Kar Medical College Hospital , Mukherjee ، Kheya Multidisciplinary Research Unit, Department of Microbiology - R.G. Kar Medical College Hospital , Kumar Sur ، Tapas Multidisciplinary Research Unit - R.G. Kar Medical College Hospital , Ghosh ، Sandip R.G. Kar Medical College Hospital , Vashisth ، Sanjay R.G. Kar Medical College Hospital
Abstract :
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 800 to 2500 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.
Keywords :
Inborn errors of metabolism , Genetic mutations , Enzyme , Metabolic defects , Targeted and untargeted metabolomics
Journal title :
Disease and Diagnosis
Journal title :
Disease and Diagnosis
