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mitochondria
Known as the powerhouses of cells, they take in nutrients, break them down, and create energy for the cell. When this process does not work it can lead to problems with muscular and other sensory function.
View the full jargon busterNeurosciences
Mitochondrial Diagnostic Service
Contact: (0191) 282 9351 - Angela Phillips, Mitochondrial Nurse Specialist
What are Mitochondrial Disorders?
Mitochondrial disorders are rare genetic conditions affecting a variety of organs, but in particular the central nervous system and muscles. Diagnosis is often difficult because of the wide range of symptoms and the complexity of the biochemical and genetic tests involved.
Our Service
Our team is one of only a handful of specialist neurosciences centres in the UK to offer a comprehensive service for both adults and children suspected or diagnosed as having a rare mitochondrial disease. We offer a national service so you can be referred here no matter where you live, and we see patients from all over England and Scotland.
Our Neurosciences Centre at the Royal Victoria Infirmary (RVI) has a large clinical trials unit, which means that our patients can be offered the opportunity try potential new therapies for their condition and are often first to benefit from ground-breaking new treatments.
Advanced diagnostic facilities and clinical expertise
We provide a range of diagnostic tests to help understand why you may have developed your condition and how best to control the symptoms. These could include:
- muscle morphology and histochemistry
- measurement of mitochondrial enzyme activity
- analysis of mitochondrial genome
- analysis of nuclear genetic defects causing mitochondrial dysfunction
We run outpatient clinics led by doctors and nurses with a particular expertise in mitochondrial disorders to help you to manage your condition and, in particular, any problems affecting your eyes or heart.
Specialist care and support where and when you need it
We are committed to ensuring that people with complex neurological conditions get the support they need, and our Mitochondrial Nurse Specialist is available to provide counselling and guidance whenever you need it. Specialist hospital care can also be provided to help you manage specific neurological problems and for further investigations if necessary.
More information
If you would like any more information on any aspect of our service, please do not hesitate to contact:
Professor D Turnbull, Consultant Neurologist
Telephone: (0191) 282 0340
Angela Phillips, Mitochondrial Nurse Specialist
Telephone: (0191) 282 9351
You can also visit the Mitochondrial NCG website for more in-depth information:
