Diagnosis of 'possible' mitochondrial disease: an existential crisis

Sumit Parikh, Amel Karaa, Amy Goldstein, Enrico Silvio Bertini, Patrick F Chinnery, John Christodoulou, Bruce H Cohen, Ryan L Davis, Marni J Falk, Carl Fratter, Rita Horvath, Mary Kay Koenig, Michaelangelo Mancuso, Shana McCormack, Elizabeth M McCormick, Robert McFarland, Victoria Nesbitt, Manuel Schiff, Hannah Steele, Silvia StocklerCarolyn Sue, Mark Tarnopolsky, David R Thorburn, Jerry Vockley, Shamima Rahman

Research output: Contribution to journalArticle


Primary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of 'possible' mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of 'diagnosis uncertain', together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.

Original languageEnglish
Pages (from-to)123-130
Number of pages8
JournalJournal of Medical Genetics
Issue number3
Publication statusPublished - Mar 2019


Cite this

Parikh, S., Karaa, A., Goldstein, A., Bertini, E. S., Chinnery, P. F., Christodoulou, J., Cohen, B. H., Davis, R. L., Falk, M. J., Fratter, C., Horvath, R., Koenig, M. K., Mancuso, M., McCormack, S., McCormick, E. M., McFarland, R., Nesbitt, V., Schiff, M., Steele, H., ... Rahman, S. (2019). Diagnosis of 'possible' mitochondrial disease: an existential crisis. Journal of Medical Genetics, 56(3), 123-130. https://doi.org/10.1136/jmedgenet-2018-105800