An Overview of the Inborn Errors of Metabolism, Its Diagnosis, and Management
عنوان مقاله: An Overview of the Inborn Errors of Metabolism, Its Diagnosis, and Management
شناسه ملی مقاله: JR_IEJM-12-4_007
منتشر شده در در سال 1402
شناسه ملی مقاله: JR_IEJM-12-4_007
منتشر شده در در سال 1402
مشخصات نویسندگان مقاله:
Avijit Saha - Multidisciplinary Research Unit, R.G. Kar Medical College & Hospital, Kolkata, India
خلاصه مقاله:
Avijit Saha - Multidisciplinary Research Unit, R.G. Kar Medical College & Hospital, Kolkata, India
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.
کلمات کلیدی: Inborn errors of metabolism, Genetic mutations, Enzyme, Metabolic defects, Targeted and untargeted metabolomics
صفحه اختصاصی مقاله و دریافت فایل کامل: https://civilica.com/doc/1817771/