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Title: Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy and Mutations in the Sulfonylurea Receptor
Authors: Dunne, M. J.
Kane, C.
Shepherd, R. M.
Sanchez, J. A.
James, Roger F. L.
Johnson, Paul R. V.
Aynsley-Green, A.
Lu, S.
Clement, J. P.
Lindley, K. J.
Seino, S.
Aguilar-Bryan, L.
Gonzalez, G.
Milla, P. J.
First Published: 6-Mar-1997
Publisher: Massachusetts Medical Society
Citation: New England Journal of Medicine 1997; 336:703-706
Abstract: [1st paragraph] Persistent hyperinsulinemic hypoglycemia of infancy is caused by inappropriate and excessive secretion of insulin. Although the disease is rare in outbred communities (approximately 1 case per 50,000 persons), the incidence is approximately 1 per 2500 in inbred Arabic communities in which there is a familial (autosomal recessive) form of the disease. The disease most commonly presents with severe hypoglycemia a few hours after birth, although some cases present after several weeks or months. Some patients have a response to treatment with diazoxide or somatostatin, but others require partial pancreatectomy to control the hyperinsulinism.
DOI Link: 10.1056/NEJM199703063361005
ISSN: 0028-4793
eISSN: 1533-4406
Version: Post-print
Status: Peer-reviewed
Type: Journal Article
Rights: Archived with reference to SHERPA/RoMEO and publisher website.
Appears in Collections:Published Articles, College of Medicine, Biological Sciences and Psychology

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