Open AccessKrebs Cycle Metabolite Profiling for Identification and Stratification of Pheochromocytomas/Paragangliomas due to Succinate Dehydrogenase Deficiency
Author(s) -
Susan Richter,
Mirko Peitzsch,
Elena Rapizzi,
Jacques W.M. Lenders,
Nan Qin,
Aguirre A. de Cubas,
Francesca Schiavi,
Jyotsna U. Rao,
Felix Beuschlein,
Marcus Quinkler,
Henri J L M Timmers,
Giuseppe Opocher,
Massimo Mannelli,
Karel Pacák,
Mercedes Robledo,
Graeme Eisenhofer
Publication year - 2014
Publication title -
the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2014-2151
Subject(s) - sdhb , succinate dehydrogenase , paraganglioma , sdhd , fumarase , isocitrate dehydrogenase , citric acid cycle , cancer research , metabolite , chemistry , biology , biochemistry , mutation , gene , metabolism , enzyme , germline mutation , medicine , pathology
Mutations of succinate dehydrogenase A/B/C/D genes (SDHx) increase susceptibility to development of pheochromocytomas and paragangliomas (PPGLs), with particularly high rates of malignancy associated with SDHB mutations.