Krebs Cycle Metabolite Profiling for Identification and Stratification of Pheochromocytomas/Paragangliomas due to Succinate Dehydrogenase Deficiency
نویسندگان
چکیده
منابع مشابه
Succinate Dehydrogenase Deficiency in Pediatric and Adult Gastrointestinal Stromal Tumors
Gastrointestinal stromal tumors (GISTs) in adults are generally driven by somatic gain-of-function mutations in KIT or PDGFRA, and biological therapies targeted to these receptor tyrosine kinases comprise part of the treatment regimen for metastatic and inoperable GISTs. A minority (10-15%) of GISTs in adults, along with ∼85% of pediatric GISTs, lacks oncogenic mutations in KIT and PDGFRA. Not ...
متن کاملHereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.
Mitochondrial complex II, or succinate dehydrogenase, is a key enzymatic complex involved in both the tricarboxylic acid (TCA) cycle and oxidative phosphorylation as part of the mitochondrial respiratory chain. Germline succinate dehydrogenase subunit A (SDHA) mutations have been reported in a few patients with a classical mitochondrial neurodegenerative disease. Mutations in the genes encoding...
متن کاملIntravascular Hemolysis Due to Glucose‐6‐Phosphate Dehydrogenase Deficiency in a Patient with Aluminium Phosphide Poisoning
Aluminium Phosphide poisoning and glucose‐6‐phosphate dehydrogenase deficiency are two commonly seen clinical presentations in Iran. However, hemolysis associated with Aluminium Phosphide poisoning is very rare. We report a case of concurrent Aluminium Phosphide poisoning and glucose‐6‐phosphate dehydrogenase deficiency in a 24 year old man presenting with intravascular hemolysis. Key words...
متن کاملCardiac‐specific succinate dehydrogenase deficiency in Barth syndrome
Barth syndrome (BTHS) is a cardiomyopathy caused by the loss of tafazzin, a mitochondrial acyltransferase involved in the maturation of the glycerophospholipid cardiolipin. It has remained enigmatic as to why a systemic loss of cardiolipin leads to cardiomyopathy. Using a genetic ablation of tafazzin function in the BTHS mouse model, we identified severe structural changes in respiratory chain ...
متن کاملSuccinate Dehydrogenase Deficiency Is Rare in Pituitary Adenomas
Germline mutations in the succinate dehydrogenase genes (SDHA, SDHB, SDHC, and SDHD) are established as causes of pheochromocytoma/paraganglioma, renal carcinoma, and gastrointestinal stromal tumor. It has recently been suggested that pituitary adenomas may also be a component of this syndrome. We sought to determine the incidence of SDH mutation in pituitary adenomas. We performed screening im...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2014
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2014-2151