Clinical and Molecular Spectrum of Glutamate Dehydrogenase Gene Defects in 26 Chinese Congenital Hyperinsulinemia Patients

Table 2

Comparison of mutant and wild-type GDH enzyme kinetics in 293T cells.

293T cells	GTP IC50 (nM)
Wild type	80
p.R221C	600
p.H262Y	450
p.R269H	1060
p.N410S	53500
p.N410I	31060
p.R443W	63200
p.S445L	45100
p.G446C	48400
p.V453M	158000
p.H454Y	298000