Mitochondrial cytopathy Dr Rob Hicks There are many different ways that problems with the building blocks of cells can have an effect on the body.

In this article

What it is mitochondrial cytopathy? Symptoms

Treatment and recovery Advice and support

The mitochondria are energy-producing structures found in every cell in the body - they're the body's power plants. If they don't work properly the problem is known as mitochondrial cytopathy.

There are many different types of mitochondrial cytopathy. Each causes different symptoms of differing severity.

The mitochondria may be damaged by inherited problems or problems acquired during life, which may determine the different forms of the condition.

An affected individual can experience problems related to their condition soon after birth or may only develop problems in adulthood.

Mitochondria are in every single cell and any organ can be involved. Tissues that use a lot of energy, particularly the brain, muscle, kidney and liver, are more commonly involved. Someone with a mitochondrial cytopathy may have such mild symptoms that they're not troubled by the condition at all, for those with severe symptoms the problem can be fatal.

As any organ can be affected there is a diversity of symptoms. Each syndrome has a unique collection of symptoms. For example, in Leigh's syndrome some of the possible symptoms include seizures, poor muscle tone, fatigue, eating and swallowing difficulties, and respiratory problems.

In Kearns-Sayre syndrome there may be deafness, dementia, heart block and paralysis of eye movements.

Other symptoms often associated with mitochondrial cytopathies include gastrointestinal disorders, liver disease, diabetes, drooping eyelids, short stature, kidney problems, muscles weakness, heart problems and developmental delays.

Despite many ongoing trials, it's not possible to prevent mitochondrial cytopathies and it's not possible to cure the condition either, so treatment is targeted at relieving symptoms and delaying the progression of the disease.

Treatment may involve medication, vitamin and mineral supplements, as well as supportive treatments such as physiotherapy and occupational therapy.

Children Living with Inherited Metabolic Diseases (Climb)
Helpline: 0800 652 3181
Email: info.svcs@climb.org.uk
Website: www.climb.org.uk

This article was last medically reviewed by Dr Orlena Kerek in February 2009