Article
Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations.
Diabetes - 1 Jun 2009
Sayed Samir, Langdon David R, Odili Stella, Chen Pan, Buettger Carol, Schiffman Alisa B, Suchi Mariko, Taub Rebecca, Grimsby Joseph, Matschinsky Franz M, Stanley Charles A
Abstract excerpt
OBJECTIVE: Heterozygous activating mutations of glucokinase have been reported to cause hypoglycemia attributable to hyperinsulinism in a limited number of families. We report three children with de novo glucokinase hyperinsulinism mutations who displayed a spectrum of clinical phenotypes corresponding to marked differences in enzyme kinetics. RESEARCH DESIGN AND METHODS: Mutations were directly sequenced, and...
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