Mitochondrial diseases

Abstract

Mitochondrial diseases are characterized by reduction in the functions of the intracellular mitochondria, especially of energy metabolism. There are two major genetic causes groups involved; genes in the nuclear DNA and genes in mitochondrial DNA. Clinical manifestations are diverse. Psychiatric, neurologic, muscular and cardiac manifestations are frequently observed; the renal and endocrine systems are often involved, and underlying diabetes is common. It is crucial to have a high index of suspicion for this disease when patients present with manifestations originating from more than one organ, patients showing a maternal inheritance pattern or patients with high serum and/or cerebrospinal fluid lactate levels in order to diagnose this disease properly.