Avijit Saha
1,2* , Shritama Aich
1* , Kheya Mukherjee
1,3 , Tapas Kumar Sur
1 , Sandip Ghosh
4 , Sanjay Vashisth
51 Multidisciplinary Research Unit, R.G. Kar Medical College & Hospital, Kolkata, India
2 Department of Biochemistry, R.G. Kar Medical College & Hospital, Kolkata, India
3 Department of Microbiology, R.G. Kar Medical College & Hospital, Kolkata, India
4 Principal, R.G. Kar Medical College & Hospital, Kolkata, India
5 M.S.V.P, R.G. Kar Medical College & Hospital, Kolkata, India
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.