Endocrine Abstracts

Background: The enzyme succinate dehydrogenase (SDH) functions in the citric acid cycle and loss of function of this enzyme can lead to the development of phaeochromocytoma/paraganglioma (PPGL), gastrointestinal stromal tumour (GIST) and renal cell carcinoma. A germline mutation in one of the four genes (SDH-A/B/C/D) encoding the SDH complex is the most common mechanism of SDH inactivation causing SDH deficiency and is routinely screened for...