Where does mitochondrial disease hide if it is NOT diagnosed?

As mentioned earlier, mitochondrial disease is often referred to as the ‘notorious masquerader’. Therefore, other illnesses are usually investigated long before mitochondrial disease is considered. This means that people with mitochondrial disease are often ‘hidden’ in other areas of medicine and this creates frustration and confusion for patients, practitioners and specialists.

Given its elusive nature, mitochondrial disease should be considered in all patients with an atypical presentation, particularly those suggested in the diagram below.

Also, some overlap is beginning to emerge with mainstream illnesses, for example, there is strong evidence that impaired mitochondrial function is important in Parkinson’s disease, diabetes and diabetic complications. Disorders such as Alzheimer’s, autism, cardiovascular disease and some forms of cancer have also been associated with mitochondrial dysfunction, as has the process of ageing.