GLUD1

(redirected from GDH 1)

GLUD1

A gene on chromosome 10q23.3 that encodes glutamate dehydrogenase 1, a mitochondrial matrix enzyme which catalyses the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. It plays a key role in regulating amino acid-induced insulin secretion. GLUD1 is allosterically activated by ADP and inhibited by GTP and ATP; it may be involved in learning and memory by increasing the turnover of the neurotransmitter glutamate.

Molecular pathology
Missense mutations of GLUD1 cause hyperinsulinemic hypoglycaemia type 6.
References in periodicals archive ?
Glycogen storage disease type 1 (GDH 1) is a metabolic disease which occurs as a result of dysfunction in glucose 6 phosphatase (G6Paz) system.
Body weight, height and height SDS values Variables GSD 1a GDH 1b Ortalama [+ or -] SS BW (Kg) 21.7 [+ or -] 14.9 35.7 [+ or -] 18.8 Height (cm) 100.0 [+ or -] 26.3 125 [+ or -] 34.6 Height SDS -1.88 [+ or -] 1.17 -1.86 [+ or -] 0.45 Variables GDH 1 Ortalama SD BW (Kg) 20.2 [+ or -] 13.9 Height (cm) 97.2 [+ or -] 24.5 Height SDS -1.88 [+ or -] 1.1 BW: Body weight Table 3.