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.
MeSH terms
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Antihypertensive Agents / therapeutic use
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Congenital Hyperinsulinism / drug therapy
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Congenital Hyperinsulinism / genetics*
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Diazoxide / therapeutic use
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Female
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Homozygote*
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Humans
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India
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Infant, Newborn
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Mutation*
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Potassium Channels, Inwardly Rectifying / genetics*
Substances
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Antihypertensive Agents
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Kir6.2 channel
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Potassium Channels, Inwardly Rectifying
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Diazoxide