Day-case and inpatient services are available for patients who have to travel for specific diagnostic investigations, and are available for both children and adults. Muscle biopsies are not always available in certain hospitals and these can be arranged to be performed in Newcastle as part of the diagnostic work-up.
Outpatient Consultations are available for patients and families with suspected or proven mitochondrial disease. Clinical examination may confirm the suspicion of mitochondrial disease or suggest an alternative diagnosis. Clear plans of investigation or patient management will be established during the clinic appointment with close collaboration between the referring consultant and the patients own general practitioner. Whenever possible, follow up will be at local hospitals, although some patients with particularly rare conditions or where local services are limited may require longer term follow up in Newcastle. Consultations are also available for women with proven mtDNA disease or who are carriers of pathogenic mtDNA mutations and who require advice concerning the possible transmission of the mtDNA mutation to their children. Patients or families in which mitochondrial respiratory chain disease is confirmed but in whom the genetic diagnosis has not been established, or with mutations in known nuclear genes, also have access to this service.
For clinicians wishing to refer patients for a clinical opinion (either as outpatients or inpatients), please write to Professor Turnbull (adult referrals) or Dr McFarland (paediatric referrals) at the following address:
Newcastle Mitochondrial NSCT Laboratory
Wellcome Trust Centre for Mitochondrial Research,
4th Floor Cookson Building
The Medical School
Newcastle upon Tyne