Diagnosis of 'possible' mitochondrial disease: an existential crisis.

TitleDiagnosis of 'possible' mitochondrial disease: an existential crisis.
Publication TypeJournal Article
Year of Publication2019
AuthorsParikh, S, Karaa, A, Goldstein, A, Bertini, ESilvio, Chinnery, PF, Christodoulou, J, Cohen, BH, Davis, RL, Falk, MJ, Fratter, C, Horvath, R, Koenig, MKay, Mancuso, M, McCormack, S, McCormick, EM, McFarland, R, Nesbitt, V, Schiff, M, Steele, H, Stockler, S, Sue, C, Tarnopolsky, M, Thorburn, DR, Vockley, J, Rahman, S
JournalJ Med Genet
Date Published2019 Mar

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 , together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.

Alternate JournalJ. Med. Genet.
Citation Key10.1136/jmedgenet-2018-105800
PubMed ID30683676
Grant ListG1000848 / / Medical Research Council / United Kingdom