Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene

Glutamate dehydrogenase (GDH) is allosterically activated by the amino acid leucine to mediate protein stimulation of insulin secretion. Children with the hyperinsulinism/hyperammonemia (HI/HA) syndrome have symptomatic hypoglycemia plus persistent elevations of plasma ammonium. We have reported tha...

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Veröffentlicht in:	Diabetes (New York, N.Y.) N.Y.), 2000-04, Vol.49 (4), p.667
Hauptverfasser:	Stanley, Charles A, Fang, Jie, Kutyna, Karen, Hsu, Betty Y L
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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