Information for individuals seeking diagnosis


Many experts refer to mitochondrial disease (mito) as the ‘notorious masquerader’ because it mimics so many other different illnesses.

If you have symptoms associated with three or more organs and/or have any ‘red flag’** symptoms, please speak to your GP about mito.

The Mito Foundation believes there are thousands of individuals in Australia, who are un- or misdiagnosed and do not have access to the specialist care they desperately need.


What are the symptoms of mito?

Mito can be summarised as…

any symptom, in any organ, at any age.

The diagram below shows the organ systems that may be affected and the range of symptoms associated with mito. Ongoing research into mito continues to uncover more symptoms. These may not be included in the diagram.

Maybe It's Mito Diagram


Understanding mito

What is mito? This resource offers a comprehensive look at mito including types of mito, symptoms, diagnosis and preventions and treatments. 

Mitochondrial Disease Health Professionals Guide

This guide was developed to help health professionals better understand mito and give the best possible care to those affected. To request a printed version to pass on to your doctor, please contact

Recognising Mito -
GP Infographic

This infographic is aimed at GPs and includes information about possible symptoms. It is a useful resource to print and give to your doctor.


We know that one of the most common challenges people with mito face is speaking with GPs who are unfamiliar with mito*. Due to the complexities of mito – it can cause any symptom in an organ in any age. It is frequently un- and misdiagnosed.


Whether your GP knows about mito or not, please encourage them, and other GPs in the practice, to complete a health professional module about mitochondrial disease. The module ‘Piecing it together: Maybe it’s Mito’ attracts Continuing Professional Development points.

Pass on the link below to the module. You can also download and personalise a letter to your GP to encourage them to learn more about mito.


The Mito Foundation understands that finding health professionals who are familiar with mitochondrial disease (mito) can be a frustrating experience. To try to ease this stress, we have collated an ever growing list of health professionals including neurologists, GPs, neurogeneticists, metabolic disease specialists, and allied health professionals who have experience in diagnosing, treating, and managing people with mitochondrial disease or suspected of having mito. Please contact the Helpline to find health professionals in your area.

If you have a great GP or another health professional who understands mito, please encourage them to join the Mito Professionals Directory and help more mito patients. Invite them to find out more by calling the foundation on 02 8033 4113, emailing or by visiting:


The Mito Foundation provides a variety of support services for people with mito and those awaiting a diagnosis.

Whether you need help finding a medical specialist, information about government benefits, want to hear about the latest research or would like to connect with others affected by mito…or you simply need an empathetic ear – we are here for you.

Find out more about all the support services we offer.


The Maybe it’s Mito education program was funded thanks to the generous support of the Mito Foundation’s donors. It will have a direct impact on thousands of Australians affected by mito.

*Data from The Mitochondrial Disease 2018 Australian PEEK (Patient, Experience, Expectations and Knowledge) study.

** Red flag symptoms can include diabetes, seizures and ‘salt and pepper’ retinopathy. Find out more in our Infographic. Print and take the infographic to your GP to assist in discussion.

The Maybe it’s Mito content has been produced by Saatchi & Saatchi Wellness in partnership with Australian Doctor Group, with an independent educational grant from the Mito Foundation.

Disclaimer: Resources provided by the Australian Mitochondrial Disease Foundation Limited (Mito Foundation), offers general information and is not a substitute for medical advice. It is essential to assess the suitability of the content for your individual circumstances and make decisions based on your medical condition. The information’s accuracy is subject to change, and we do not guarantee ongoing currency or availability. While efforts are made to ensure accuracy, Mito Foundation is not obligated to provide updated information. The copyright for this document and its content belongs to, or is licensed to, Mito Foundation, and reproduction without prior written consent is prohibited.

Author(s): Mito Foundation
Version: 2
Last reviewed: 11 March 2024