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hyperinsulinemia hypoglycemia familial 3
- ... of insulin (hyperinsulinism) and unusually low blood glucose (hypoglycemia).Researchers have identified at least five HADH gene mutations that cause familial hyperinsulinism. These mutations severely reduce 3-hydroxyacyl-CoA dehydrogenase activity, either by impairing the ...
- ... Genetic Testing Registry: Hyperinsulinism-hyperammonemia syndrome Congenital ... FAMILIAL, 3; HHF3 HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6 HYPERINSULINEMIC HYPOGLYCEMIA, ...
- ... muscle weakness (hypotonia), liver problems, low blood glucose (hypoglycemia), and ... with 3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk ...
- ... rapidly removed from the bloodstream. Without treatment, the hypoglycemia caused by congenital hyperinsulinism may result in serious complications such as intellectual ...
- ... of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat. ... JAMA. 2014 Jan 15;311(3):279-86. doi: 10.1001/jama.2013.283980. ...
- ... sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum Mutat. 2009 Feb;30(2):170-80. ... of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat. 2009 Nov;30(11):1512-26. ...