Endocrine Abstracts

Mitochondrial disorders are the result of mitochondrial respiratory chain dysfunction and caused by mutations of genes encoded by the nuclear or the mitochondrial DNA. They affect approximately 1 in 5000 of the population and are the most common group of inborn errors of metabolism. Most of them involve multiple organ systems with predominant central nervous system features including ptosis, external ophthalmoplegia and sensorineural hearing loss.Introdu...