?:definition
|
-
Molecular assay reagents intended to identify mutations in the glutamate dehydrogenase 1 (GLUD1) gene, located at chromosome 10q23.3, which regulates the elevation of glutamate dehydrogenase activity and may induce glutamine-stimulated insulin secretion. Mutations at this locus have been identified in patients with early-onset infantile hyperinsulinism-hyperammonemia syndrome.
|