Clinical report demonstrates severe hypoglycemia and hyperammonemia in a patient with a novel GLUD1 mutation, implying the need for genetic testing.
The patient presented with severe hypoglycemia and convulsions 43 h after birth. The clinical features were typical, with the presence of obvious hyperinsulinemic hypoglycemia and asymptomatic hyperammonemia, and it was sensitive to the treatment of diazoxide. The diagnosis of HI/HA was confirmed by genetic testing.
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Li et al. (2026) studied this question.
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