Acta Scientific Paediatrics (ISSN: 2581-883X)

Editorial Volume 5 Issue 3

Inherited Metabolic Disorders - Relevance of Newborn Screening in India

MP Narayanan

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

Abstract

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 [1]. About 25 million babies were born per year and infant mortality rate of 35 /1000 live births were reported in India [2]. 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 [3]. 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.

References

  1. García-Cazorla A., et al. "Mental retardation and inborn errors of metabolism”. Journal of Inherited Metabolic Disease 32.5 (2009): 597-608.
  2. Kamath and SSachidananda. "Reducing the infant mortality rate of India to 20 by 2020: Together we can do”. Indian Pediatrics 52.3 (2015): 193-194.
  3. Organization for Rare Diseases India.
  4. Waters Donald., et al. “Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence”. Journal of Global Health 8.2 (2018): 021102.
  5. Das Subir Kumar. "Inborn errors of metabolism: Challenges and management”. Indian Journal of Clinical Biochemistry 28.4 (2013): 311-313.
  6. ICMR Task Force on Inherited Metabolic Disorders. drseemakapoor@ gmail. com Rita Christopher A. Radha Rama Devi Madhulika Kabra Seema Kapoor Roli Mathur Mamta.
  7. Muranjan Puneet K., et al. “Newborn screening for congenital hypothyroidism and congenital adrenal hyperplasia”. The Indian Journal of Pediatrics 85 (2018): 935-940.
  8. Kaur Gurjit., et al. "Current and future perspective of newborn screening: an Indian scenario”. Journal of Pediatric Endocrinology and Metabolism 29.1 (2016): 5-13.
  9. Choudhuri Tarun and Sivajee Sengupta. "Inborn error of metabolism--An Indian perspective”. International Journal of Human Genetics 6.1 (2006): 89-91.

Citation

Citation: MP Narayanan. “Inherited Metabolic Disorders - Relevance of Newborn Screening in India”. Acta Scientific Paediatrics 5.3 (2022): 25-26.

Copyright

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.




Metrics

Acceptance rate33%
Acceptance to publication20-30 days
Impact Factor1.197

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