3-alpha-hydroxyacyl-coenzyme a dehydrogenase deficiency

Hyperinsulinism due to inactivating mutation(s) in the gene HADH, encoding mitochondrial (short-chain) hydroxyacyl-coenzyme A dehydrogenase, resulting in loss of inhibition of glutamate dehydrogenase (GDH). This condition is also characterized by protein-induced hypoglycemia, but in contrast to GLUD1-associated hyperinsulinism, hyperammonemia is absent.

Disease Alternative Name

mitochondrial hydroxyacyl-coenzyme a dehydrogenase hyperinsulinism
hadh-associated hyperinsulinism
schad hyperinsulinism

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