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71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

definition

Hyperinsulinism due to short chain 3 hydroxylacyl-CoA dehydrogenase (SCHAD) deficiency is a recently described mitochondrial fatty acid oxidation disorder characterized by hyperinsulinemic hypoglycemia with seizures, and in one case fulminant hepatic failure.