Mitochondrial Case Studies

Russell P. Saneto is a pediatric neurologist who specializes in diagnosis and treatment of mitochondrial disorders and intractable epilepsy. His PhD was in human biochemical genetics was obtained at the University of Texas Medical Branch. His medical degree was obtained from the Des Moines University of Osteopathic Medicine and he did his pediatric, pediatric neurology, and pediatric neurophysiology fellowship at the Cleveland Clinic in Ohio. He began diagnosing and treatment of mitochondrial disease during residency and has continued studying this disorder during his career at Seattle Children’s Hospital over the past 15 years. He is currently the Head of the Mitochondrial Medicine group at Seattle Children’s and is a professor in the department of Neurology and adjunct Professor in Pediatrics. He has appointments in both Pediatrics and Neurology at Seattle Children’s and University of Washington. Sumit Parikh, MD is the Director of the Cleveland Clinic Neurogenetics, Metabolic & Mitochondrial disease program. Dr. Parikh completed his residency in pediatrics and fellowship in child neurology at the Children's Hospital of Pittsburgh. He received additional training in genetics and metabolism at Cleveland Clinic and Centers for Inherited Diseases of Metabolism. Dr. Parikh is part of the North American Mitochondrial Disease Research Consortium (NAMDC) and the Primary Investigator for the Pearson Syndrome Natural History study. He serves as the current chair of the United Mitochondrial Disease Foundation Scientific & Medical Advisor Board. He is the immediate Past-President of the Mitochondrial Medicine Society.

• 1. Clinical Correlates of Mitochondrial Physiology and Disease2. MELAS-encoded diseases3. MELAS-(classic presentation)4. MERRF5. Pearson Syndrome6. Kearn-Sayre Syndrome7. Chronic Progressive External Ophthalmoplegia8. Leber Hereditary Optic Neuropathy9. Leigh Syndrome10. NARP11. Maternal Inherited Diabetes12. Sporadic Myopathy13. Pyruvate Dehydrogenase Complex Deficiencies14. Friedreich Ataxia15. Leigh Syndrome16. Reversible Myopathy17. Childhood Alpers-Huttenlocher Syndrome18. Juvenile Alpers-Huttenlocher Syndrome19. Autosomal dominant Progressive External Ophthalmoplegia20. c10orf2 (Twinkle)21. MPV17/Deoxyguanosine Kinase22. RRM2B23. Mitochondrial Nasogastric Intestinal Encephalopathy24. Thymidine Kinase25. OPA126. MFN227. Aminoacyl-tRNA synthetase (CNS)28. Aminoacyl-tRNA synthetase (Non-CNS)29. MTO130. Complex I31. Complex II32. Complex III (GRACILE)33. Complex IV34. Complex V35. Coenzyme Q10 (Primary Brain)36. Coenzyme Q10 (Primary Renal)