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Article

Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father.

European journal of medical genetics - 1 Dec 2021

Dushar Marya, Nowaczyk Jędrzej, Pyrżak Beata, Akopyan Hayane, Śmigiel Robert, Walczak Anna, Rydzanicz Małgorzata, Płoski Rafał, Szczałuba Krzysztof

Abstract excerpt

Activating mutation in the insulin signal-transducing kinase AKT2 results in severe hypoinsulinemic hypoketotic hypoglycemia and a characteristic phenotype of possible overgrowth and, sometimes, acanthosis nigricans. Herein, we describe a metabolic and hormonal profile before and during treatment with sirolimus in two brothers with AKT2 mutation inherited from the mosaic father, who showed low-level mosaicism in...

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PMID: 34673243
DOI: 10.1016/j.ejmg.2021.104368

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