Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment
Join MitoAction and Dr. Richard Frye to discuss the distinction between primary and secondary mitochondrial diagnosis. Some talking points will include:
Primary mitochondrial disease (PMD) is ideally diagnosed by a known or indisputably pathogenic mitochondrial or nuclear DNA mutation.
Secondary mitochondrial dysfunction (SMD) can be caused by genes encoding either function nor production of the oxphos proteins and accompanies many hereditary non-mitochondrial diseases.
Secondary mitochondrial dysfunction (SMD) can also be caused by enviornmental factors.
In the absence of the ability to diagnose a primary mitochondrial disease (PMD), mitochondrial dysfunction can be effectively treated with standard treatments for PMD.
When the etiology of mitochondrial dysfunction is unknown, re-evaluation for genetic and other causes should be revisited on a regular basis.
About The Speaker:
Dr. Richard Frye is a pediatric neurologist and Chief of the Division of Neurodevelopmental Disorders at Phoenix Children’s Hospital. He received his MD/PhD from Georgetown University in 1998. He completed a residency in Pediatrics at the University of Miami, Residency in Child Neurology and Fellowship in Behavioral Neurology and Learning Disabilities at Harvard University/Children’s Hospital Boston and Fellowship in Psychology at Boston University. He holds board certifications in Pediatrics, and in Neurology with Special Competence in Child Neurology. Dr. Frye is a national leader in autism research. He has authored over 100 peer-reviewed publications and book chapters, and serves on several editorial boards of scientific and medical journals.