Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor

The Journal of Clinical Endocrinology and Metabolism
Sheela N MaggeC A Stanley

Abstract

Familial leucine-sensitive hypoglycemia of infancy was described in 1956 as a condition in which symptomatic hypoglycemia was provoked by protein meals or the amino acid, leucine. The purpose of this study was to determine the genetic basis for hypoglycemia in a family diagnosed with leucine-sensitive hypoglycemia in 1960. Recently diagnosed family members showed a dominantly transmitted pattern of diazoxide-responsive hyperinsulinism (HI). However, they did not fit the characteristics of HI caused by glutamate dehydrogenase gene mutations, previously felt to explain leucine-sensitive hypoglycemia. Islet function was examined using acute insulin response (AIR) tests to calcium, leucine, glucose, and tolbutamide as well as oral protein tolerance tests. Five of five affected family members showed an abnormal positive calcium AIR, and two of five showed a positive leucine AIR. Protein-induced hypoglycemia was demonstrated in five of six affected subjects. Mutation analysis of four known HI genes (sulfonylurea receptor 1, Kir6.2, glutamate dehydrogenase, and glucokinase) in family members identified an R1353H missense mutation in exon 33 of SUR1. (86)Rb(+) efflux and electrophysiological studies of R1353H SUR1 coexpressed with wild...Continue Reading

Citations

Oct 22, 2008·Journal of Inherited Metabolic Disease·Johannes Zschocke
Dec 21, 2006·Nature Clinical Practice. Endocrinology & Metabolism·Diva D De León, Charles A Stanley
Aug 3, 2005·The Journal of Clinical Investigation·Frances M Ashcroft
May 27, 2010·Nutrition Reviews·Jichun YangBryan A Wolf
Jan 31, 2006·FEBS Letters·Annie Frelet, Markus Klein
Feb 15, 2005·Early Human Development·Keith J Lindley, Mark J Dunne
Oct 25, 2007·Clinical Pharmacology and Therapeutics·S SattirajuA Terzic
Jan 21, 2010·Physiological Reviews·Hiroshi HibinoYoshihisa Kurachi
Oct 12, 2019·Pediatric Diabetes·Elizabeth B TatsiAmalia Sertedaki
Dec 25, 2007·Clinical Chemistry·Andrew A PalladinoCharles A Stanley
Jul 12, 2013·Journal of Pediatric Endocrinology & Metabolism : JPEM·Cresio AlvesCharles Stanley
Apr 25, 2018·The Journal of General Physiology·Michael C Puljung

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