Activating AKT2 Mutation: Hypoinsulinemic Hypoketotic Hypoglycemia
نویسندگان
چکیده
منابع مشابه
Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase
OBJECTIVE Genetic activation of the insulin signal-transducing kinase AKT2 causes syndromic hypoketotic hypoglycaemia without elevated insulin. Mosaic activating mutations in class 1A phospatidylinositol-3-kinase (PI3K), upstream from AKT2 in insulin signalling, are known to cause segmental overgrowth, but the metabolic consequences have not been systematically reported. We assess the metabolic...
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Hypoglycemia is induced by many causes, especially over-dose of insulin or oral hypoglycemic agents in diabetic subjects. In such a case, hyperinsulinemic hypoglycemia is usually observed. On the other hand, it is important to classify secondary hypoglycemia and hypoinsulinemic hypoglycemia. Liver injury-induced hypoglycemia is one of the causes of hypoinsulinemic hypoglycemia but rarely observ...
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A rare sign of some malignant tumors is a sudden eruption of multiple seborrheic keratoses called Leser-Trélat sign. Overproduction of insulin-like growth factor-2 (IGF2) or its precursor is the main mechanism related to non-islet cell tumor hypoglycemia. Doege-Potter syndrome is the name given to paraneoplastic hypoinsulinemic hypoglycemia in presence of a solitary fibrous tumor. This report d...
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UNLABELLED INTRODUCTION Doege-Potter syndrome is a paraneoplastic syndrome characterized by non-islet cell tumor hypoglycemia secondary to a solitary fibrous tumor. This tumor causes hypoglycemia by the secretion of a prohormone form of insulin-like growth factor II. We describe the diagnosis and management of Doege-Potter syndrome and the use of transarterial chemoembolization in a patient ...
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Microtubule Affinity-Regulating Kinase 2 (MARK2) protein has a substantial role in regulation of vital cellular processes like induction of polarity, regulation of cell junctions, cytoskeleton structure and cell differentiation. The abnormal function of this protein has been associated with a number of pathological conditions like Alzheimer disease, autism, several carcinomas and development of...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2014
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2013-3228