Review

. 2017 Dec;19(12):10.1038/gim.2017.107.

doi: 10.1038/gim.2017.107. Epub 2017 Jul 27.

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Sumit Parikh¹, Amy Goldstein², Amel Karaa³, Mary Kay Koenig⁴, Irina Anselm⁵, Catherine Brunel-Guitton⁶, John Christodoulou⁷, Bruce H Cohen⁸, David Dimmock⁹, Gregory M Enns¹⁰, Marni J Falk¹¹, Annette Feigenbaum^{12

13}, Richard E Frye¹⁴, Jaya Ganesh¹⁵, David Griesemer¹⁶, Richard Haas^{17

18}, Rita Horvath¹⁹, Mark Korson²⁰, Michael C Kruer²¹, Michelangelo Mancuso²², Shana McCormack²³, Marie Josee Raboisson²⁴, Tyler Reimschisel²⁵, Ramona Salvarinova²⁶, Russell P Saneto²⁷, Fernando Scaglia²⁸, John Shoffner²⁹, Peter W Stacpoole³⁰, Carolyn M Sue³¹, Mark Tarnopolsky³², Clara Van Karnebeek^{33

34}, Lynne A Wolfe³⁵, Zarazuela Zolkipli Cunningham³⁶, Shamima Rahman³⁷, Patrick F Chinnery³⁸

Affiliations

¹ Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.
² Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
³ Division of Genetics, Massachusetts General Hospital, Boston, Massachusetts, USA.
⁴ Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas, USA.
⁵ Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
⁶ Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
⁷ Neurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute, and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Australia.
⁸ Neurodevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio, USA.
⁹ Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
¹⁰ Division of Medical Genetics, Department of Pediatrics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California, USA.
¹¹ Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
¹² Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
¹³ Department of Pediatrics, University of California San Diego and Rady Childrens Hospital, San Diego, California, USA.
¹⁴ Department of Pediatrics, University of Arkansas Medical Sciences, Little Rock, Arkansas, USA.
¹⁵ Division of Genetics, Department of Pediatrics, Cooper Medical School at Rowan University, Camden, New Jersey, USA.
¹⁶ Division of Neurology, Levine Children's Hospital, Charlotte, North Carolina, USA.
¹⁷ Departments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, California, USA.
¹⁸ Department of Neurosciences, Rady Children's Hospital, San Diego, California, USA.
¹⁹ Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
²⁰ Genetic Metabolic Center for Education, Salem, Massachusetts, USA.
²¹ Department of Pediatric Neurology, University of Arizona College of Medicine, Phoenix, Arizona, USA.
²² Department of Experimental and Clinical Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
²³ Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
²⁴ Department of Cardiology, CHU Sainte-Justine, Montreal, Quebec, Canada.
²⁵ Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
²⁶ Division of Biochemical Diseases, BC Children's Hospital, British Columbia, Canada.
²⁷ Department of Neurology, Seattle Children's Hospital/University of Washington, Seattle, Washington, USA.
²⁸ Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.
²⁹ Neurology, Biochemical & Molecular Genetics, Atlanta, Georgia, USA.
³⁰ Department of Medicine, University of Florida College of Medicine, Gainesville, Florida, USA.
³¹ Department of Neurology and Kolling Institute, Royal North Shore Hospital, St Leonards, Australia.
³² Division of Neurology, McMaster University, Hamilton, Ontario, Canada.
³³ Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
³⁴ Department of Pediatrics, Centre for Molecular Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
³⁵ Undiagnosed Diseases Network, National Institutes of Health, Bethesda, Maryland, USA.
³⁶ Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
³⁷ Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
³⁸ Department of Clinical Neurosciences & MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

PMID: 28749475
PMCID: PMC7804217
DOI: 10.1038/gim.2017.107

Review

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Sumit Parikh et al. Genet Med. 2017 Dec.

. 2017 Dec;19(12):10.1038/gim.2017.107.

doi: 10.1038/gim.2017.107. Epub 2017 Jul 27.

Authors

Affiliations

¹ Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio, USA.
² Division of Child Neurology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
³ Division of Genetics, Massachusetts General Hospital, Boston, Massachusetts, USA.
⁴ Division of Child and Adolescent Neurology, University of Texas Medical School at Houston, Houston, Texas, USA.
⁵ Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
⁶ Department of Pediatrics, University of Montreal, Montreal, Quebec, Canada.
⁷ Neurodevelopmental Genomics Research Group, Murdoch Childrens Research Institute, and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Australia.
⁸ Neurodevelopmental Science Center, Children's Hospital Medical Center of Akron, Akron, Ohio, USA.
⁹ Rady Children's Institute for Genomic Medicine, San Diego, California, USA.
¹⁰ Division of Medical Genetics, Department of Pediatrics, Stanford University Lucile Packard Children's Hospital, Palo Alto, California, USA.
¹¹ Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
¹² Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.
¹³ Department of Pediatrics, University of California San Diego and Rady Childrens Hospital, San Diego, California, USA.
¹⁴ Department of Pediatrics, University of Arkansas Medical Sciences, Little Rock, Arkansas, USA.
¹⁵ Division of Genetics, Department of Pediatrics, Cooper Medical School at Rowan University, Camden, New Jersey, USA.
¹⁶ Division of Neurology, Levine Children's Hospital, Charlotte, North Carolina, USA.
¹⁷ Departments of Neurosciences and Pediatrics, University of California San Diego, La Jolla, California, USA.
¹⁸ Department of Neurosciences, Rady Children's Hospital, San Diego, California, USA.
¹⁹ Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.
²⁰ Genetic Metabolic Center for Education, Salem, Massachusetts, USA.
²¹ Department of Pediatric Neurology, University of Arizona College of Medicine, Phoenix, Arizona, USA.
²² Department of Experimental and Clinical Medicine, Neurological Clinic, University of Pisa, Pisa, Italy.
²³ Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
²⁴ Department of Cardiology, CHU Sainte-Justine, Montreal, Quebec, Canada.
²⁵ Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
²⁶ Division of Biochemical Diseases, BC Children's Hospital, British Columbia, Canada.
²⁷ Department of Neurology, Seattle Children's Hospital/University of Washington, Seattle, Washington, USA.
²⁸ Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.
²⁹ Neurology, Biochemical & Molecular Genetics, Atlanta, Georgia, USA.
³⁰ Department of Medicine, University of Florida College of Medicine, Gainesville, Florida, USA.
³¹ Department of Neurology and Kolling Institute, Royal North Shore Hospital, St Leonards, Australia.
³² Division of Neurology, McMaster University, Hamilton, Ontario, Canada.
³³ Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
³⁴ Department of Pediatrics, Centre for Molecular Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
³⁵ Undiagnosed Diseases Network, National Institutes of Health, Bethesda, Maryland, USA.
³⁶ Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
³⁷ Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
³⁸ Department of Clinical Neurosciences & MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

PMID: 28749475
PMCID: PMC7804217
DOI: 10.1038/gim.2017.107

Abstract

The purpose of this statement is to provide consensus-based recommendations for optimal management and care for patients with primary mitochondrial disease. This statement is intended for physicians who are engaged in the diagnosis and management of these patients. Working group members were appointed by the Mitochondrial Medicine Society. The panel included members with several different areas of expertise. The panel members utilized surveys and the Delphi method to reach consensus. We anticipate that this statement will need to be updated as the field continues to evolve. Consensus-based recommendations are provided for the routine care and management of patients with primary genetic mitochondrial disease.

PubMed Disclaimer

Conflict of interest statement

DISCLOSURE

The authors declare no conflict of interest.

Figures

**Figure 1**
Body systems affected by primary mitochondrial disease.

See this image and copyright information in PMC

Comment in

Management of ophthalmologic manifestations of mitochondrial diseases.
Newman NJ, Yu-Wai-Man P, Sadun AA, Karanjia R, Carelli V. Newman NJ, et al. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.171. Epub 2017 Oct 26. Genet Med. 2017. PMID: 29215643 No abstract available.
Response to Newman et al.
Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Josee Raboisson M, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Zolkipli Cunningham Z, Rahman S, Chinnery PF. Parikh S, et al. Genet Med. 2017 Dec;19(12):10.1038/gim.2017.164. doi: 10.1038/gim.2017.164. Epub 2017 Oct 26. Genet Med. 2017. PMID: 29215644 Free PMC article. No abstract available.

References

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. Parikh S, Goldstein A, Koenig MK, et al. Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management. Mitochondrion 2013;13:681–687. - PubMed
1. Parikh S, Goldstein A, Koenig MK, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med 2015;17:689–701. - PMC - PubMed
1. Pfeffer G, Majamaa K, Turnbull DM, Thorburn D, Chinnery PF. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2012:CD004426. - PMC - 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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Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Affiliations

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

Comment in

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

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Medical