Mitochondrial disease: recognising more than just the tip of the iceberg

Carolyn M Sue
Med J Aust 2010; 193 (4): . || doi: 10.5694/j.1326-5377.2010.tb03864.x
Published online: 16 August 2010

On 22 August 2010, the Australian Mitochondrial Disease Foundation will hold its annual Stay in Bed Day to raise awareness of a genetic disorder that robs thousands of Australians of their energy

Mutations in mitochondrial DNA (mtDNA) were discovered to cause mitochondrial disease over 20 years ago.1 Initially thought to be a rare group of neurological disorders predominantly affecting children, it is now known that patients with mitochondrial disease can develop a broad range of symptoms (Box) and may present at any age from early in the neonatal period to very late in adulthood. Debilitating or fatal forms of mitochondrial disease are more frequent in children than in adults, but adult patients often have chronic multisystemic manifestations that require symptomatic treatment and regular long-term surveillance to minimise the chance of life-threatening episodes of acute illness.

  • Carolyn M Sue

  • Department of Neurology, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Sydney, NSW.



remove_circle_outline Delete Author
add_circle_outline Add Author

Do you have any competing interests to declare? *

I/we agree to assign copyright to the Medical Journal of Australia and agree to the Conditions of publication *
I/we agree to the Terms of use of the Medical Journal of Australia *
Email me when people comment on this article

Online responses are no longer available. Please refer to our instructions for authors page for more information.