To read the full abstract: Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):551573.
This review provides a state of the art in the field of hyperinsulinaemic hypoglycemia (HH). The physiology of insulin secretion is discussed followed by the classification of the different subtypes of HH and then a detailed description of all the monogenic forms of HH. Novel forms of HH, such as due to mutations in the genes hexokinase 1 (HK1), Phosphoglucomutase 1 (PGM1), Phosphomannosmutase 2 (PPM2) and FOXA2 are described. The importance of a timely diagnosis and management are emphasized and an algorithm for the key steps in the management of these complex patients is suggested.