Which of the following inborn errors of metabolism is NOT routinely screened in the Indian national neonatal screening program?

Explanation

## Neonatal Screening in India ### National Neonatal Screening Program Coverage The Indian national neonatal screening program (as per guidelines from the Ministry of Health & Family Welfare and Indian Academy of Pediatrics) includes: | Disorder | Screened | Category | | --- | --- | --- | | Congenital hypothyroidism | Yes | Endocrine | | G6PD deficiency | Yes | Hemolytic | | Phenylketonuria (PKU) | Yes | Amino acid | | Maple syrup urine disease (MSUD) | No | Amino acid (selective centers only) | | Galactosemia | Selective | Carbohydrate | | Congenital adrenal hyperplasia | Selective | Endocrine | **Key Point:** The core national screening program focuses on **congenital hypothyroidism, G6PD deficiency, and phenylketonuria** as the primary tier-1 disorders. MSUD is screened only in select tertiary centers with advanced tandem mass spectrometry (MS/MS) facilities, not universally. **High-Yield:** Remember the **"Big 3" of Indian neonatal screening**: CHT (congenital hypothyroidism), G6PD, and PKU. MSUD requires specialized equipment and is not part of the universal program. **Clinical Pearl:** While MSUD is a severe disorder causing neurological damage if undetected, the lack of universal screening in India reflects resource constraints and the lower incidence in the Indian population compared to Caucasian populations. ### Why MSUD Is Not Universally Screened 1. Requires tandem mass spectrometry (expensive, not available in all centers) 2. Lower incidence in Indian population (~1 in 250,000 vs. 1 in 185,000 in Caucasians) 3. National guidelines prioritize high-incidence, cost-effective screening tests