[HTML][HTML] Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father
M Dushar, J Nowaczyk, B Pyrżak, H Akopyan… - European Journal of …, 2021 - Elsevier
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 sperm. The
boys, aged 1 and 14, who had severe non-insulin-dependent hypoketotic hypoglycemia and …
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 sperm. The
boys, aged 1 and 14, who had severe non-insulin-dependent hypoketotic hypoglycemia and …