Hyperinsulinism Hyperammonemia Syndrome

The hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism in which affected children have recurrent symptomatic hypoglycemia together with asymptomatic, persistent elevations of plasma ammonium levels. The disorder is caused by dominant mutations of the mitochondrial enzyme, glutamate dehydrogenase (GDH), that impair sensitivity to the allosteric inhibitor, GTP. Patients have clinical evidence of hyperinsulinism, including attacks of symptomatic hypoglycemia. Developmental delay and intellectual disability occur as sequelae of recurrent uncontrolled hypoglycemic attacks.

No information available from this source.

This disease is not (yet) listed on their website.