부산대학교 도서관

The diagnosis of mitochondrial disease is complex because of its clinical and genetic heterogeneity. Typically, histopathological findings and respiratory chain enzyme results from skeletal muscle are interpreted in the context of clinical findings and results from ancillary laboratory tests. While the investigative process often relies on a muscle biopsy, diagnosis can sometimes be achieved with direct testing of mitochondrial genes and/or nuclear genes, especially when there is a recognizable clinical syndrome. In BC, consultation with the Biochemical Genetics Laboratory at BC Children's Hospital is strongly recommended prior to any muscle biopsy, as sample handling is critical to the diagnostic process. Treatment of patients with mitochondrial diseases currently involves the use of vitamin supplements, arginine, and exercise therapy. While exercise is proven to improve mitochondrial function, the efficacy of other treatments has not yet been established and clinical trials are ongoing. Regardless of the therapies used, management also involves screening for treatable complications of mitochondrial disease, such as diabetes mellitus and cardiac conduction, and providing support for patients and families dealing with chronic illness. [ABSTRACT FROM AUTHOR]