Article
Congenital Hyperinsulinemic Hypoglycemia With a New HADH Mutation and Pancreatic Overexpression of GLP-1 Receptors.
The Journal of clinical endocrinology and metabolism - 21 Jan 2026
Widmer Andrea, Zumsteg Urs, Szinnai Gabor, Filges Isabel, Meier Stephanie, De Geyter Julie, Antwi Kwadwo, Wild Damian, Nuoffer Jean-Marc, Christ Emanuel
Abstract excerpt
BACKGROUND: The most common cause of endogenous hyperinsulinemic hypoglycemia in neonates [congenital hyperinsulinemic hypoglycemia (CHH)] is different monogenic forms of gene mutations. About 50% of the mutations are known. We present a new mutation within the short-chain L-3-hydroxyacyl-CoA dehydrogenase (HADH) gene causing CHH in 2 related patients. METHODS: The course of 2 consanguineous patients with CHH are...
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