Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Sumit Parikh; Amy Goldstein; Mary Kay Koenig; Fernando Scaglia; Gregory M Enns; Russell Saneto; Irina Anselm; Bruce H Cohen; Marni J Falk; Carol Greene; Andrea L Gropman; Richard Haas; Michio Hirano; Phil Morgan; Katherine Sims; Mark Tarnopolsky; Johan L K Van Hove; Lynne Wolfe; Salvatore DiMauro

doi:10.1038/gim.2014.177

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Genet Med. 2015 Sep;17(9):689-701. doi: 10.1038/gim.2014.177. Epub 2014 Dec 11.

Authors

Sumit Parikh¹, Amy Goldstein², Mary Kay Koenig³, Fernando Scaglia⁴, Gregory M Enns⁵, Russell Saneto^{6

7}, Irina Anselm⁸, Bruce H Cohen⁹, Marni J Falk¹⁰, Carol Greene¹¹, Andrea L Gropman¹², Richard Haas¹³, Michio Hirano¹⁴, Phil Morgan¹⁵, Katherine Sims¹⁶, Mark Tarnopolsky¹⁷, Johan L K Van Hove¹⁸, Lynne Wolfe¹⁹, Salvatore DiMauro¹⁴

Affiliations

¹ Department of Neurology, Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.
² Department of Pediatrics, Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
³ Department of Pediatrics, Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas, USA.
⁴ Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.
⁵ Department of Pediatrics, Division of Medical Genetics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California, USA.
⁶ Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.
⁷ Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington, USA.
⁸ Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
⁹ Department of Pediatrics, NeuroDevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio, USA.
¹⁰ Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
¹¹ Department of Pediatrics, University of Maryland Medical Center, Baltimore, Maryland, USA.
¹² Department of Neurology, Children's National Medical Center and the George Washington University of the Health Sciences, Washington, DC, USA.
¹³ Department of Neurosciences and Pediatrics, UCSD Medical Center and Rady Children's Hospital San Diego, La Jolla, California, USA.
¹⁴ Department of Neurology, Columbia University Medical Center, New York, New York, USA.
¹⁵ Department of Anesthesiology, Seattle Children's Hospital, Seattle, Washington, USA.
¹⁶ Department of Neurology, Harvard Medical School and Massachusetts General Hospital, Boston, Massachusetts, USA.
¹⁷ Department of Pediatrics and Medicine, McMaster University, Hamilton, Ontario, Canada.
¹⁸ Department of Pediatrics, Clinical Genetics and Metabolism, Children's Hospital Colorado, Denver, Colorado, USA.
¹⁹ National Institutes of Health, Bethesda, Maryland, USA.

Abstract

Purpose: The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and treatment. This statement is intended for physicians who are engaged in diagnosing and treating these patients.

Methods: The Writing Group members were appointed by the Mitochondrial Medicine Society. The panel included members with expertise in several different areas. The panel members utilized a comprehensive review of the literature, surveys, and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve.

Results: Consensus-based recommendations are provided for the diagnosis and treatment of mitochondrial disease.

Conclusion: The Delphi process enabled the formation of consensus-based recommendations. We hope that these recommendations will help standardize the evaluation, diagnosis, and care of patients with suspected or demonstrated mitochondrial disease.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Consensus
Delphi Technique
Evidence-Based Medicine
Humans
Mitochondrial Diseases / diagnosis*
Mitochondrial Diseases / therapy*
Treatment Outcome

Abstract

Publication types

MeSH terms

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