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Article

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.

Diabetes research and clinical practice - 1 Apr 2017

Stanik Juraj, Skopkova Martina, Brennerova Katarina, Danis Daniel, Rosolankova Monika, Salingova Anna, Bzduch Vladimir, Klimes Iwar, Gasperikova Daniela

Abstract excerpt

AIM: Congenital hyperinsulinism (CHI) and glycogen storage disease (glycogenosis) are both causing hypoglycemia during infancy, but with different additional clinical features and therapeutic approach. We aimed to identify a genetic cause in a child with an ambiguous phenotype. METHODS AND RESULTS: We present a child with hyperinsulinemic hypoglycemia, physiological 3-OH butyrate, increased triglyceride serum...

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PMID: 28242437
DOI: 10.1016/j.diabres.2017.02.014

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