| hyperinsulinisme door deficiëntie van korte-keten-3-hydroxy-acyl-coenzym-A-dehydrogenase (aandoening) |
| hyperinsulinisme door deficiëntie van korte-keten-3-hydroxy-acyl-coenzym-A-dehydrogenase |
| hyperinsulinisme door korte-keten-3-hydroxy-acyl-coenzym-A-dehydrogenasedeficiëntie
hyperinsulinisme door korte-keten-3-hydroxyacyl-CoA-dehydrogenasedeficiëntie
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| Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
| Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
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| A rare form of congenital diazoxide-sensitive diffuse hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD; HADH gene) deficiency and characterized by hyperinsulinemic hypoglycemia with seizures and reported to respond well to diazoxide. It presents with the classical manifestations of hyperinsulinemic hypoglycemia. Exceptional complications include sudden death, and in one case fulminant hepatic failure. |
