Mitochondria are the powerhouses of the cell providing the body with over 90% of the energy it needs to sustain life. Mitochondria take in fats, sugars and protein from the food we eat and produce energy called ATP that our bodies use to function properly. Mitochondrial disease ('mito' for short) is caused by a fault in one or more of the genes that make up the mitochondria. These faulty genes can be inherited from the mother or the father.

This video has been generously shared with permission from The Lily Foundation.

One in 200 people have genetic changes that put them at risk of developing mito.1

One in 4,300 people are affected by mito, making it one of the most commonly diagnosed genetic diseases.2

At least one Australian child born each week will develop a severe or life-threatening form of mito.2

Mito is an umbrella term, like 'cancer'. There are many different types of mito, as there are many types of cancer. Some forms of mito affect a single organ, whereas many involve multiple organ systems. It's important to talk to your healthcare provider to understand what your child's diagnosis means for them.

If you need more information or someone to talk to, you can call our helpline at 1300 977 180. We're here to help you through this journey.

What are mitochondria?

Mitochondria are the powerhouse of the cell.

What is mitochondrial disease?

Mitochondrial disease (mito) is an umbrella term, like ‘cancer’.

What types of mito are there?

There are many different types of mito, as there are many types of cancer.

How do genetic changes cause mito?

Genes are the information that make you unique.

Little Book about Mito

A little book about mito

A brightly illustrated book to help you guide your child through their mito diagnosis. Designed and written by Martine Vanderspuy and illustrated by Dean Crawley and Martine Vanderspuy.

Learn more about the symptoms that impact your child.

Understanding your child's diagnosis can help access the best treatment options.

Recommended tests recommended for children with mito

Ways to prepare for the conversation about mito.

In 2017, after months of tests, Dr Gupta explained that he suspected a mitochondrial disorder called Leigh’s Disease, which was the cause of Carrera’s seizures. Dr Gupta went on to tell Carrera’s parents, Jen and Dan, that mito was incurable and that Carrera might live to adult maturity or might have a very short life. But Jen and Dan knew their beautiful little girl is more than just her illnesses. She is a pillar of strength and hope and manages to get everyone she meets to fall in love with her.

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
Reviewer(s): Professor John Christodoulou AM MB BS PhD FRACP FRCPA FHGSA
Version: 1
Date published: 28 November 2023