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Ann Pediatr Endocrinol Metab > Volume 10(2); 2005 > Article
A Case of Hyperinsulinism/hyperammonemia Syndrome.
Ji Yeon Sung, Su Young Hong, Choong Ho Shin, Sei Won Yang
Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea. chshinpd@snu.ac.kr
The hyperinsulinism/hyperammonemia (HI/HA) syndrome is a form of congenital hyperinsulinism. The children with HI/HA syndrome present recurrent symptomatic hypoglycemia and asymptomatic, persistent hyperammonemia, caused by mutations of the GLUD1 encoding the mitochondrial enzyme, glutamate dehydrogenase (GDH). The mutations impair sensitivity to the inhibition of GTP (guanosine triphosphate), which results in stimulation of insulin secretion from pancreatic beta-cells and increased rates of ammonia production. Leucine is known to mediate the insulin secretion. We report HI/HA syndrome with a 12-month-old male who had intermittent hypoglycemia. We revealed characteristic clinical findings of hypoglycemia induced by oral administration of protein in this patient who had mutations of GLUD1 (S445L).
Keywords: Hyperinsulinism;Hyperammonemia;GLUD1


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