Purpose of review: Mitochondrial diseases are a major category of childhood illness that produce a wide variety of symptoms and multisystemic disorders. This review highlights recent clinically important developments in diagnostic evaluation and treatment of mitochondrial diseases.
Recent findings: Major advances have been made in understanding the genetic bases of mitochondrial diseases. Molecular defects have recently been reported in mitochondrial DNA maintenance, RNA translation and protein import and in mitochondrial fusion and fission, opening new areas of cell disorder. Diagnostic testing is struggling to keep pace with these fundamental discoveries. The diagnostic approach to children suspected of mitochondrial disease is rapidly evolving but few patients have a molecular diagnosis. A better notion of the prognosis of affected children is emerging from studies of long-term outcome. Some therapeutic successes are reported, such as in coenzyme Q deficiency conditions.
Summary: Mitochondrial diseases can present with signs in almost any organ. Well planned clinical evaluation is the key to successful diagnostic work-up of mitochondrial diseases. An approach is presented for further testing in specialized laboratories. Mitochondrial diseases can be caused by mutations in mitochondrial DNA or, more commonly in children, in nuclear genes. Mitochondrial DNA mutations pose special challenges for genetic counseling and prenatal diagnosis. Supportive treatment and avoidance of environmental stresses are important aspects of patient care. Specific treatment of mitochondrial diseases is in its infancy and is a major challenge for pediatric medicine.