How are mitochondrial diseases diagnosed?
We will discuss contemporary criteria for patient diagnosis and why careful investigations are important to clinical management as well as how primary and secondary defects in mitochondrial function are diagnosed. Why is understanding the genetics of mitochondrial disease important? Mitochondrial diseases have an exceedingly complex genetics. Our understanding of how to treat and manage patients with mitochondrial diseases is inextricably linked to identification of the precise genes. New genetic technologies will be discussed that will have enormous impact on our understanding of mitochondrial disease. • Mitochondrial Disease and Autistic Spectrum Disorders We will discuss important advances in understanding how mitochondrial diseases are associated with some patients who have autistic spectrum disorders. Understanding autistic patients is important for understanding how mitochondrial diseases impair learning and behavior in many types of mitochondrial disease patients. • Mitochondria