Recent perspectives of pediatric mitochondrial diseases

Mitochondrial disorders are amongst the most common groups of inborn errors of metabolism. They are caused by deficiencies in the final pathway of the cellular energy production, the mitochondrial respiratory chain. The disorders are clinically and genetically heterogeneous and the aetiology could be found in the mitochondrial, or in the nuclear genome. We searched important e-databases for the collection of latest literature on the mitochondrial disease especially in pediatric population. Most of the studies in the recent past have focused on the understanding of the clinical phenotypes and pathophysiological mechanisms. Leigh syndrome is a common severe, neurodegenerative disease of early childhood. A defect in the POLG gene is another common observation in most of the cases leading to Alpers syndrome. The review concludes that pediatric mitochondrial disorders are severe, progressive and usually multi-systemic. Further, whole genome sequencing is an excellent diagnostic option.