Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment

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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.

Date: 04/19/2019
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