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• W2007653611 abstract "This report describes two patients from unrelated families with an unusual syndrome of hyperinsulinism plus hyperammonemia. The diagnosis of hyperinsulinism was based on the demonstration of fasting hypoglycemia with inappropriately elevated insulin levels, inappropriately low beta-hydroxybutyrate and free fatty acid levels, and inappropriately large glycemic response to the administration of glucagon. In both patients, plasma ammonium levels were persistently elevated and unaffected by protein feeding, protein restriction, or benzoate therapy. Plasma and urinary amino acids, urinary organic acids, and urinary orotic acid levels were not consistent with any of the urea cycle enzyme defects or other hyperammonemic disorders. These two patients appear to represent a unique form of congenital hyperinsulinism distinct from the previously described autosomal dominant and autosomal recessive variants. We speculate that the underlying defect involves a site that is common to the amino acid regulation of both insulin secretion in pancreatic beta-cells and urea synthesis in the liver." @default.
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• W2007653611 date "1997-04-01" @default.
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• W2007653611 title "A syndrome of congenital hyperinsulinism and hyperammonemia" @default.
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• W2007653611 doi "https://doi.org/10.1016/s0022-3476(97)70256-7" @default.
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