A retrospective audit of patients diagnosed with mitochondrial disease in New Zealand from 2000 to 2015

An early step towards understanding mitochondrial disease in New Zealand

Clinician: Dr Sarah Missen, National Metabolic Service

What: Mitochondrial disease represents a heterogeneous group of rare inherited metabolic conditions, caused by defects in the cells ability to produce energy. The broad and variable way in which mitochondrial disease manifests means patients first present to a number of different specialities, thus increasing the complexity of diagnosis, management and also the study of this group of disorders.  

Who: This study aims to ascertain how many people have been diagnosed with suspected or proven mitochondrial disease in New Zealand between 2000 and 2015, as well as identifying where these patients are located, which clinicians are diagnosing and managing them and how they initially presented to secondary care. 

Why: We currently have no information on how many patients in New Zealand have mitochondrial disease or how they have presented. The information gathered through this audit will improve clinician awareness of mitochondrial disease and enable the formation of stronger networks between clinicians, thus improving the diagnosis and management of these patients. This study has the support of the mitochondrial disease family network in New Zealand.