Article
Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings.
Indian pediatrics - 8 Oct 2016
Satapathy Amit Kumar, Jain Vandana, Ellard Sian, Flanagan Sarah E
Abstract excerpt
BACKGROUND: Hyperinsulinemia is the commonest cause of persistent hypoglycemia in infancy. Inactivating mutations in the genes ABCC8 and KCNJ11 are the commonest cause. Mutation in the HADH gene, which encodes the short-chain-L-3-hydroxyacyl-CoA dehydrogenase, is a rare cause. CASE CHARACTERISTICS: Two Indian sisters who presented with hyperinsulinemic hypoglycemia of infancy. OBSERVATION/INTERVENTION: A novel...
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