Literature DB >> 28749475

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 Feigenbaum12,13, Richard E Frye14, Jaya Ganesh15, David Griesemer16, Richard Haas17,18, 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 Karnebeek33,34, Lynne A Wolfe35, Zarazuela Zolkipli Cunningham36, Shamima Rahman37, Patrick F Chinnery38.   

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.

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Year:  2017        PMID: 28749475      PMCID: PMC7804217          DOI: 10.1038/gim.2017.107

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  90 in total

Review 1.  Mitochondrial respiratory-chain diseases.

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Review 2.  Mitochondrial disease and epilepsy.

Authors:  Shamima Rahman
Journal:  Dev Med Child Neurol       Date:  2012-01-28       Impact factor: 5.449

3.  Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study.

Authors:  Michelangelo Mancuso; Selina Piazza; Leda Volpi; Daniele Orsucci; Valeria Calsolaro; Elena Caldarazzo Ienco; Cecilia Carlesi; Anna Rocchi; Lucia Petrozzi; Rosanna Calabrese; Gabriele Siciliano
Journal:  Neurol Sci       Date:  2011-07-13       Impact factor: 3.307

4.  Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Authors:  Rosamaria Santarelli; Elona Cama; Pietro Scimemi; Chiara La Morgia; Leonardo Caporali; Maria Lucia Valentino; Rocco Liguori; Valerio Carelli
Journal:  Brain       Date:  2016-03-25       Impact factor: 13.501

5.  Mitochondrial disease--an important cause of end-stage renal failure.

Authors:  Shamima Rahman; Andrew M Hall
Journal:  Pediatr Nephrol       Date:  2012-12-12       Impact factor: 3.714

6.  Psychiatric involvement in adult patients with mitochondrial disease.

Authors:  Michelangelo Mancuso; Daniele Orsucci; Elena Caldarazzo Ienco; Eleonora Pini; Anna Choub; Gabriele Siciliano
Journal:  Neurol Sci       Date:  2011-12-23       Impact factor: 3.307

7.  Ophthalmological findings in 74 patients with mitochondrial disease.

Authors:  Cheng-Cheng Zhu; Elias I Traboulsi; Sumit Parikh
Journal:  Ophthalmic Genet       Date:  2016-03-30       Impact factor: 1.803

Review 8.  Response of skeletal muscle mitochondria to hypoxia.

Authors:  Hans Hoppeler; Michael Vogt; Ewald R Weibel; Martin Flück
Journal:  Exp Physiol       Date:  2003-01       Impact factor: 2.969

9.  Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy.

Authors:  T Klopstock; G Metz; P Yu-Wai-Man; B Büchner; C Gallenmüller; M Bailie; N Nwali; P G Griffiths; B von Livonius; L Reznicek; J Rouleau; N Coppard; T Meier; P F Chinnery
Journal:  Brain       Date:  2013-02-06       Impact factor: 13.501

10.  Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

Authors:  Peter J Kullar; Jenna Quail; Phillip Lindsey; Janet A Wilson; Rita Horvath; Patrick Yu-Wai-Man; Grainne S Gorman; Robert W Taylor; Yi Ng; Robert McFarland; Brian C J Moore; Patrick F Chinnery
Journal:  Brain       Date:  2016-03-25       Impact factor: 15.255

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  65 in total

Review 1.  Mitochondrial disorders.

Authors:  Shibani Kanungo; Jacob Morton; Mekala Neelakantan; Kevin Ching; Jasmine Saeedian; Amy Goldstein
Journal:  Ann Transl Med       Date:  2018-12

Review 2.  Maternally inherited mitochondrial respiratory disorders: from pathogenetic principles to therapeutic implications.

Authors:  Martine Uittenbogaard; Anne Chiaramello
Journal:  Mol Genet Metab       Date:  2020-06-27       Impact factor: 4.797

3.  Dietary Management of Propionic Acidemia: Parent Caregiver Perspectives and Practices.

Authors:  Dawn Lea; Oleg Shchelochkov; Jennifer Cleary; Laura M Koehly
Journal:  JPEN J Parenter Enteral Nutr       Date:  2018-10-24       Impact factor: 4.016

4.  8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.

Authors:  Rebecca D Ganetzky; Marni J Falk
Journal:  Mol Genet Metab       Date:  2018-02-02       Impact factor: 4.797

5.  Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note.

Authors:  Han Som Choi; Jae Hyun Lee; Sun Ho Lee; Young-Mock Lee
Journal:  J Inherit Metab Dis       Date:  2017-11-06       Impact factor: 4.982

6.  Mitochondrial DNA Deletions With Low-Level Heteroplasmy in Adult-Onset Myopathy.

Authors:  Doris G Leung; Julie S Cohen; Elizabeth Harlan Michelle; Renkui Bai; Andrew L Mammen; Lisa Christopher-Stine
Journal:  J Clin Neuromuscul Dis       Date:  2018-03

Review 7.  Advances in primary mitochondrial myopathies.

Authors:  Isabella Peixoto de Barcelos; Valentina Emmanuele; Michio Hirano
Journal:  Curr Opin Neurol       Date:  2019-10       Impact factor: 5.710

8.  A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.

Authors:  Nicole J Lake; Luke E Formosa; David A Stroud; Michael T Ryan; Sarah E Calvo; Vamsi K Mootha; Bharti Morar; Peter G Procopis; John Christodoulou; Alison G Compton; David R Thorburn
Journal:  Hum Mutat       Date:  2019-04-13       Impact factor: 4.878

9.  Mitochondrial Disease: Advances in clinical diagnosis, management, therapeutic development, and preventative strategies.

Authors:  Colleen C Muraresku; Elizabeth M McCormick; Marni J Falk
Journal:  Curr Genet Med Rep       Date:  2018-05-02

10.  Response to Newman et al.

Authors:  Sumit Parikh; Amy Goldstein; Amel Karaa; Mary Kay Koenig; Irina Anselm; Catherine Brunel-Guitton; John Christodoulou; Bruce H Cohen; David Dimmock; Gregory M Enns; Marni J Falk; Annette Feigenbaum; Richard E Frye; Jaya Ganesh; David Griesemer; Richard Haas; Rita Horvath; Mark Korson; Michael C Kruer; Michelangelo Mancuso; Shana McCormack; Marie Josee Raboisson; Tyler Reimschisel; Ramona Salvarinova; Russell P Saneto; Fernando Scaglia; John Shoffner; Peter W Stacpoole; Carolyn M Sue; Mark Tarnopolsky; Clara Van Karnebeek; Lynne A Wolfe; Zarazuela Zolkipli Cunningham; Shamima Rahman; Patrick F Chinnery
Journal:  Genet Med       Date:  2017-10-26       Impact factor: 8.822

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