Research Projects

Inborn errors of metabolism (IEM) are rare inherited disorders that disrupt metabolic pathways, leading to deficiency or accumulation of specific metabolites. They are common in India, with a prevalence of 1:2497 live births. Undiagnosed IEMs contribute to significant morbidity and mortality, and early diagnosis is crucial for family planning, prenatal diagnostic testing, and disease monitoring. Despite extensive molecular investigations, 40 to 50% of children with neurometabolic disorders remain undiagnosed. RNA-sequencing (RNA-seq) has evolved to solve one-third of cases in rare mendelian disorders, but there is a lack of understanding about its role in exome negative neurometabolic disorders in children. This study aims to gain insights into RNA-seq's role in diagnosing exome negative undiagnosed pediatric patients with neurometabolic disorders and study the pathological mechanisms of mitochondrial abnormalities in these patients.