A Case of Hyperinsulinism/hyperammonemia Syndrome / 대한소아내분비학회지
Journal of Korean Society of Pediatric Endocrinology
;
: 236-240, 2005.
Article
in Korean
| WPRIM
| ID: wpr-91274
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).
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Administration, Oral
/
Hyperammonemia
/
Congenital Hyperinsulinism
/
Glutamate Dehydrogenase
/
Guanosine Triphosphate
/
Ammonia
/
Hyperinsulinism
/
Hypoglycemia
/
Insulin
/
Leucine
Limits:
Child
/
Humans
/
Infant
/
Male
Language:
Korean
Journal:
Journal of Korean Society of Pediatric Endocrinology
Year:
2005
Type:
Article
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