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

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.

PMID: 25503498
PMCID: PMC5000852
DOI: 10.1038/gim.2014.177

Review

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

Sumit Parikh et al. Genet Med. 2015 Sep.

. 2015 Sep;17(9):689-701.

doi: 10.1038/gim.2014.177. Epub 2014 Dec 11.

Authors

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.

PMID: 25503498
PMCID: PMC5000852
DOI: 10.1038/gim.2014.177

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.

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References

1. Chinnery PF. Mitochondrial disorders overview. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews. University of Washington; Seattle, WA: 1993–2014.
1. Parikh S, Goldstein A, Koenig MK, et al. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014;14:26–33. - PubMed
1. Haas RH, Parikh S, Falk MJ, et al. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab. 2008;94:16–37. - PMC - PubMed
1. Vafai SB, Mootha VK. Mitochondrial disorders as windows into an ancient organelle. Nature. 2012;491:374–383. - PubMed
1. Pfeffer G, Horvath R, Klopstock T, et al. New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol. 2013;9:474–481. - PMC - PubMed

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

Affiliations

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

Authors

Affiliations

Abstract

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical