Senior Resident, Department of Biochemistry, All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand, India
*Corresponding Author: MP Narayanan, Senior Resident, Department of Biochemistry, All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand, India.
Received: February 28, 2022; Published: February 28, 2022
Congenital metabolic disorders/Inherited metabolic disorders caused by deficiency of enzymes which result in substrate accumulation and cause mild or sever neurologic/psychological manifestations. This leads to death or permanent disability of the child. Some forms IEMs cause isolated stable mental retardation (MR) and global developmental delay . About 25 million babies were born per year and infant mortality rate of 35 /1000 live births were reported in India . Around 500 inborn errors of metabolism (IEM) were present in Indian population and it is stated that 1:20 Indian have some form of disorder or birth defects . Pooled birth prevalence of IEM in the Eastern Mediterranean region is about 75.7/100 000 live births. Total fatality rate in developing countries is 33% accounting for 0.4% of child deaths all over the world.
Citation: MP Narayanan. “Inherited Metabolic Disorders - Relevance of Newborn Screening in India”. Acta Scientific Paediatrics 5.3 (2022): 25-26.
Copyright: © 2022 MP Narayanan. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.