Article
Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome.
Osaka city medical journal - 1 Jun 2011
Aso Kazuyoshi, Okano Yoshiyuki, Takeda Taisuke, Sakamoto Osamu, Ban Kyoko, Iida Kazumi, Yamano Tsunekazu, Shintaku Haruo
Abstract excerpt
INTRODUCTION: Congenital hyperinsulinism and hyperammonemia (CHH) is caused by gain of function of glutamate dehydrogenase (GDH). The genetic abnormalities are known to be located in three specific regions on the GDH protein. We describe here three different missense mutations identified in five new Japanese patients with CHH. And to study the genotype-phenotype correlations in patients with GLUD1 mutations, we...
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