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 journalArticlepeer-review


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


Dive into the research topics of 'Diagnosis of 'possible' mitochondrial disease: an existential crisis'. Together they form a unique fingerprint.

Cite this