Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GLUD1

IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, GLUD1

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.

Entry Terms : "GLUD1-Related Hyperinsulinism Gene Mutation Detection Reagents" , "Hyperammonemia-Hyperinsulinism Syndrome Gene Mutation Detection Reagents" , "Hyperinsulinism-Hyperammonemia Syndrome Gene Mutation Detection Reagents" , "Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) Gene Mutation Detection Reagents" , "Familial Hyperinsulinism (FHI) Gene Mutation Detection Reagents" , "GLUD1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, GLUD1"

UMDC code : 24449

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