Year: 2025 | Month: December | Volume: 15 | Issue: 12 | Pages: 50-60
DOI: https://doi.org/10.52403/ijhsr.20251206
Period Prevalence of Inborn Metabolic Errors in Neonates Admitted in NICU in Uttarakhand: A Cross-sectional Period Prevalence Study
Sunakshi Bhatt1, Anita Sharma2, Chinmay Chetan3
1Medical Undergraduate, 2Department Biochemistry, 3Department of Neonatology
Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Medical Undergraduate, Himalayan Institute of Medical Sciences, Swami Rama Himalayan University, Dehradun, Uttarakhand, India- 248016
Corresponding Author: Dr. (Professor) Anita Sharma
ABSTRACT
Background: Inborn errors of metabolism in neonates represent a critical subset of genetic disorders that can lead to life-threatening complications if not promptly diagnosed and managed. Early identification through newborn screening enables timely therapeutic intervention, significantly reducing morbidity and mortality associated with metabolic crises and neurodevelopmental impairment.
Objectives: To determine the prevalence of inborn errors of metabolism in neonates admitted in NICU in Garhwal, Uttarakhand, India. This pilot study assessed the regional prevalence of specific congenital metabolic disorders in newborns through universal screening of all neonates after stabilization just prior to discharge and age ranged from 3 to 48 days admitted to hospital in underserved area of Uttarakhand.
Methods: A cross-sectional period prevalence study was conducted at a private medical college in the state of Uttarakhand. A total of 410 neonates were enrolled in this study. Glucose-6-Phosphate Dehydrogenase deficiency, Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Biotinidase Deficiency, Maple Syrup Urine Disease, Phenylketonuria, and Galactosemia. Data was analysed statistically with SPSS software.
Results: During initial screening, a total of 17 neonates tested positive. Out of 17, 9 neonates showed G6PD deficiency, 4 showed CAH, and 2 neonates each were diagnosed with CH and BTD. Following diagnostic confirmation, G6PD deficiency exhibited the highest prevalence, accounting for 4 cases (0.98%). In contrast, CAH and CH were each identified in a single case (0.24%), indicating comparatively lower incidence rates.
Conclusions: The findings of this cross-sectional period prevalence pilot study underscore the clinical implication of use of universal newborn screening for congenital metabolic disorders in a tertiary care setting. The observed prevalence rates highlight the importance of early detection strategies in identifying asymptomatic neonates at risk, thereby facilitating timely therapeutic interventions and informing public health policy for expanded screening programs in resource-limited regions such as Uttarakhand.
Key words: New born screening, Neonates, Glucose-6-Phosphate Dehydrogenase, Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Biotinidase, Maple Syrup Urine Disease, Phenylketonuria, Galactosemia