Current concepts of mitochondrial disorders in childhood

Respiratory chain deficiencies have long been regarded as rare neuromuscular diseases mostly originating from mutations in the mitochondrial genome. Research in the last years has created quite a different picture. The clinical spectrum has expanded to multiorgan disease manifestation, with an estimated minimum incidence in children of 1:11,000. Mutations in the nuclear genome have been discovered in recent years, thereby adding mendelian genetics to the broadened spectrum of mitochondrial disease. This review summarizes recent advances in mitochondrial disorders with a special focus on childhood presentation and therapeutic approaches that may prove useful in the future.