Case Series on Inborn Errors of Metabolism in Neonates: Highlighting the Need for Newborn Screening in India

Dr. Foram Koradia, Dr. Harshal Wagh, Dr. Deepa Phirke

Abstract: This case series examines the incidence and outcomes of inborn errors of metabolism IEM in neonates admitted to a tertiary care NICU in India. Five cases are presented, each diagnosed with a different IEM. Despite early diagnosis and intervention, the mortality rate was 60%, highlighting the critical need for a national newborn screening program in India. This study underscores the importance of early detection and treatment to prevent adverse outcomes and calls for systematic screening to be implemented nationwide.

Keywords: Inborn errors of metabolism, Newborn screening, Neonates, India, NICU

How to Cite?: Dr. Foram Koradia, Dr. Harshal Wagh, Dr. Deepa Phirke, "Case Series on Inborn Errors of Metabolism in Neonates: Highlighting the Need for Newborn Screening in India", Volume 13 Issue 8, August 2024, International Journal of Science and Research (IJSR), Pages: 1579-1582, https://www.ijsr.net/getabstract.php?paperid=SR24822231716, DOI: https://dx.doi.org/10.21275/SR24822231716