Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

Carolyn M Sue^{1

2}, Shanti Balasubramaniam^{3

4

5}, Drago Bratkovic⁶, Catherine Bonifant⁷, John Christodoulou^{5

8

9

10}, David Coman^{11

12

13}, Karen Crawley², Fabienne Edema-Hildebrand¹, Carolyn Ellaway^{4

14}, Roula Ghaoui¹⁵, Maina Kava^{16

17

18}, Lisa S Kearns¹⁹, Joy Lee^{8

20}, Christina Liang^{1

2}, David A Mackey²¹, Sean Murray²², Merrilee Needham^{23

24

25}, Rocio Rius¹⁰, Jacqui Russell³, Nicholas J C Smith^{26

27}, Dominic Thyagarajan²⁸, Christine Wools²⁹

Affiliations

¹ Department of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, New South Wales, Australia.
² Department of Neurogenetics, Kolling Institute, University of Sydney, Sydney, New South Wales, Australia.
³ Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
⁴ Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
⁵ Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁶ Metabolic Clinic, Women's and Children's Hospital, Adelaide, South Australia, Australia.
⁷ Department of Dietetics and Food Services, Queensland Children's Hospital, Brisbane, Queensland, Australia.
⁸ Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
⁹ Discipline of Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.
¹⁰ Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
¹¹ Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia.
¹² School of Medicine, University of Queensland, Brisbane, Queensland, Australia.
¹³ School of Medicine, Griffith University, Brisbane, Queensland, Australia.
¹⁴ Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
¹⁵ Department of Neurology, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
¹⁶ Department of Neurology, Perth Children's Hospital, Perth, Western Australia, Australia.
¹⁷ Department of Metabolic Medicine and Rheumatology, Perth Children's Hospital, Perth, Western Australia, Australia.
¹⁸ School of Paediatrics and Child Health, University of Western Australia, Australia.
¹⁹ Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
²⁰ Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.
²¹ Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Western Australia, Australia.
²² Mito Foundation, Sydney, New South Wales, Australia.
²³ Faculty of Medicine, Notre Dame University, Fremantle, Western Australia, Australia.
²⁴ Centre for Molecular Medicine and Innovative Technology, Murdoch University, Perth, Western Australia, Australia.
²⁵ Department of Neurology, Fiona Stanley Hospital, Perth, Western Australia, Australia.
²⁶ Discipline of Paediatrics, The University of Adelaide, South Australia, Australia.
²⁷ Department of Neurology and Clinical Neurophysiology, Women's and Children's Health Network, South Australia, Australia.
²⁸ Department of Neuroscience, Alfred Centre, Melbourne, Victoria, Australia.
²⁹ Department of Neurology, Calvary Health Care Bethlehem, Melbourne, Victoria, Australia.

PMID: 34505344
PMCID: PMC9299181
DOI: 10.1111/imj.15505

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

Carolyn M Sue et al. Intern Med J. 2022 Jan.

. 2022 Jan;52(1):110-120.

doi: 10.1111/imj.15505. Epub 2021 Nov 19.

Authors

Affiliations

¹ Department of Neurology, Royal North Shore Hospital, Northern Sydney Local Health District, Sydney, New South Wales, Australia.
² Department of Neurogenetics, Kolling Institute, University of Sydney, Sydney, New South Wales, Australia.
³ Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
⁴ Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.
⁵ Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia.
⁶ Metabolic Clinic, Women's and Children's Hospital, Adelaide, South Australia, Australia.
⁷ Department of Dietetics and Food Services, Queensland Children's Hospital, Brisbane, Queensland, Australia.
⁸ Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
⁹ Discipline of Child and Adolescent Health, University of Sydney, Sydney, New South Wales, Australia.
¹⁰ Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.
¹¹ Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Queensland, Australia.
¹² School of Medicine, University of Queensland, Brisbane, Queensland, Australia.
¹³ School of Medicine, Griffith University, Brisbane, Queensland, Australia.
¹⁴ Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, New South Wales, Australia.
¹⁵ Department of Neurology, Royal Adelaide Hospital, Adelaide, South Australia, Australia.
¹⁶ Department of Neurology, Perth Children's Hospital, Perth, Western Australia, Australia.
¹⁷ Department of Metabolic Medicine and Rheumatology, Perth Children's Hospital, Perth, Western Australia, Australia.
¹⁸ School of Paediatrics and Child Health, University of Western Australia, Australia.
¹⁹ Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.
²⁰ Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.
²¹ Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Western Australia, Australia.
²² Mito Foundation, Sydney, New South Wales, Australia.
²³ Faculty of Medicine, Notre Dame University, Fremantle, Western Australia, Australia.
²⁴ Centre for Molecular Medicine and Innovative Technology, Murdoch University, Perth, Western Australia, Australia.
²⁵ Department of Neurology, Fiona Stanley Hospital, Perth, Western Australia, Australia.
²⁶ Discipline of Paediatrics, The University of Adelaide, South Australia, Australia.
²⁷ Department of Neurology and Clinical Neurophysiology, Women's and Children's Health Network, South Australia, Australia.
²⁸ Department of Neuroscience, Alfred Centre, Melbourne, Victoria, Australia.
²⁹ Department of Neurology, Calvary Health Care Bethlehem, Melbourne, Victoria, Australia.

PMID: 34505344
PMCID: PMC9299181
DOI: 10.1111/imj.15505

Abstract

This document provides consensus-based recommendations for general physicians and primary care physicians who diagnose and manage patients with mitochondrial diseases (MD). It builds on previous international guidelines, with particular emphasis on clinical management in the Australian setting. This statement was prepared by a working group of medical practitioners, nurses and allied health professionals with clinical expertise and experience in managing Australian patients with MD. As new treatments and management plans emerge, these consensus-based recommendations will continue to evolve, but current standards of care are summarised in this document.

Keywords: clinical guideline; mitochondrial disease; treatment.

PubMed Disclaimer

References

1. Manwaring N, Jones MM, Wang JJ, Rochtchina E, Howard C, Mitchell P et al. Population prevalence of the MELAS A3243G mutation. Mitochondrion 2007; 7: 230–3. - PubMed
1. Manwaring N, Wang JJ, Mitchell P, Sue CM. Mitochondrial DNA disease prevalence: still underrecognized? Ann Neurol 2008; 64: 471; author reply 71–2. - PubMed
1. Vandebona H, Mitchell P, Manwaring N, Griffiths K, Gopinath B, Wang JJ et al. Prevalence of mitochondrial 1555A→G mutation in adults of European descent. N Engl J Med 2009; 360: 642–4. - PubMed
1. Crimmins D, Morris JG, Walker GL, Sue CM, Byrne E, Stevens S et al. Mitochondrial encephalomyopathy: variable clinical expression within a single kindred. J Neurol Neurosurg Psychiatry 1993; 56: 900–5. - PMC - PubMed
1. Mazzaccara C, Iafusco D, Liguori R, Ferrigno M, Galderisi A, Vitale D et al. Mitochondrial diabetes in children: seek and you will find it. PLoS One 2012; 7: e34956. - PMC - PubMed

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Grants and funding

Mito Foundation

LinkOut - more resources

Full Text Sources
Medical
- ClinicalTrials.gov
- MedlinePlus Health Information

Save citation to file

Email citation

Add to Collections

Add to My Bibliography

Your saved search

Create a file for external citation management software

Your RSS Feed

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

Affiliations

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

Authors

Affiliations

Abstract

References

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical