Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease

Mitochondrial disease constitutes a complex and heterogeneous group of disorders resulting from a defect in mitochondrial respiratory chain (MRC) enzyme activity. In view of the dual regulation of the MRC exercised by both the mitochondrial and nuclear genome mutations in either mitochondrial or nuclear DNA can result in a MRC deficiency. Whilst a single organ can be affected MRC disorders often result in a multi-organ system presentation with prominent neurological and myopathic features. The d...See More