J Korean Soc Pediatr Endocrinol.  2005 Dec;10(2):236-240.

A Case of Hyperinsulinism/hyperammonemia Syndrome

• Sung JY
• Hong SY
• Shin CH
• Yang SW

Abstract

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).

Keyword

Hyperinsulinism; Hyperammonemia; GLUD1

MeSH Terms

Administration, Oral
Ammonia
Child
Congenital Hyperinsulinism
Glutamate Dehydrogenase
Guanosine Triphosphate
Humans
Hyperammonemia
Hyperinsulinism
Hypoglycemia
Infant
Insulin
Leucine
Male
Ammonia
Glutamate Dehydrogenase
Guanosine Triphosphate
Insulin
Leucine