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Organic Acidemias in India: Clinical and Molecular Spectrum
Sunita Bijarnia-Mahay1, Deepti Gupta2, Ratna D Puri2
1Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India. bijarnia@gmail.com.
Indian Journal of Pediatrics
|July 10, 2026
Summary
Molecular characterization of organic acidemias (OADs) in India confirmed diagnoses in 95.4% of patients, identifying 61 novel variants. This genetic insight aids in improving prenatal diagnosis and early intervention for these inherited metabolic disorders.
Area of Science:
- Medical Genetics
- Biochemistry
- Genomics
Background:
- Organic acidemias (OADs) are inherited metabolic disorders affecting branched-chain amino acid catabolism.
- Early diagnosis and molecular characterization are crucial for patient survival, genetic counseling, and family-specific preventive strategies.
Purpose of the Study:
- To perform molecular characterization of organic acidemias in Indian patients.
- To identify novel genetic variants and understand the genetic landscape of OADs in India.
Main Methods:
- A study involving 394 patients/families suspected of OADs between 2010-2025.
- Molecular studies utilized targeted Sanger sequencing or next-generation sequencing.
- Patients were classified by age and clinical presentation: acute, sub-acute/chronic, or presymptomatic/newborn screening.
Main Results:
- Molecular confirmation was achieved in 293 patients (95.4% diagnostic yield), with Glutaric acidemia type 1 and methylmalonic acidemia being most common.
- 27.6% of variants (61/221) were novel, identified across 16 genes.
- Homozygosity was observed in 71.5% of families, with a geographically clustered BCKDHB variant noted in north-western India, suggesting endogamy's impact.
Conclusions:
- Molecular characterization of OADs in India provides a framework for clinical care advancements and future research.
- The identification of 61 new variants improves global scientific records, facilitating enhanced prenatal diagnosis and early intervention strategies.
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