" /> Hyperinsulinemic hypoglycemia, familial, 6 - CISMeF





Preferred Label : Hyperinsulinemic hypoglycemia, familial, 6;

Symbol : HHF6;

CISMeF acronym : HHF6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperinsulinism-hyperammonemia syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the glutamate dehydrogenase gene (GLUD1, 138130.0001);

Laboratory abnormalities : Hypoglycemia; Hyperinsulinemia; Hyperammonemia, asymptomatic (2-5 times normal);

Prefixed ID : #606762;

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27/07/2025


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