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Hyperinsulinism-hyperammonemia syndrome
rareHyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.
- Identifiers
- MONDO:0011717 OMIM:606762Orphanet:35878
- Causal genes
- GLUD1
- Also known as
- GDH hyperinsulinism · GLUD1 hyperinsulinism · glutamate dehydrogenase 1 hyperinsulinism · HA/hi syndrome · HHF6
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