Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation.
Indian J Pediatr
;
2010 July; 77(7): 803-804
Article
in English
| IMSEAR
| ID: sea-142635
ABSTRACT
Hyperinsulinemic hypoglycemia is the most common cause of persistent hypoglycemia in infancy. While most of the cases are sporadic more than 100 mutations have been reported in the familial type. The authors report a case of familial hyperinsulinemic hypoglycemia with homozygous T294M mutation of the KCNJ11 gene, which responded to diazoxide therapy.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Female
/
Humans
/
Infant, Newborn
/
Potassium Channels, Inwardly Rectifying
/
Congenital Hyperinsulinism
/
Diazoxide
/
Homozygote
/
India
/
Mutation
/
Antihypertensive Agents
Country/Region as subject:
Asia
Language:
English
Journal:
Indian J Pediatr
Year:
2010
Type:
Article
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