Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation.

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ijp2010v77n7p803.pdf (119.82 KB)
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2010-07
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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.
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Keywords
Hyperinsulinemic hypoglycemia, KCNJ11 gene, Homozygous T294M mutation
Citation
Ilamaran V, Venkatesh C, Manish K, Adhisivam B. Persistent hyperinsulinemic hypoglycemia of infancy due to homozygous KCNJ11 (T294M) mutation. Indian Journal of Pediatrics. 2010 July; 77(7): 803-804.
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https://imsear.searo.who.int/handle/123456789/142635
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Indian Journal of Pediatrics