Glutamate Dehydrogenase 1 Hyperinsulinism

**Semantic type:** Disease or Syndrome

**Definition:** Hyperinsulinism due to activating mutation(s) in the GLUD1 gene, encoding glutamate dehydrogenase 1. This condition is characterized by protein induced hypoglycemia and hyperammonemia, which is presumed to be due to increased ammonia production in the kidney.

**Synonyms:** - GDH Hyperinsulinism - GLUD1 Hyperinsulinism - Hyperinsulinism/Hyperammonemia Syndrome