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

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.