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Case Studies | Paediatrics | India | Volume 13 Issue 8, August 2024 | Rating: 6.5 / 10
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
Edition: Volume 13 Issue 8, August 2024
Pages: 1579 - 1582