Diagnosis and management of hyperinsulinaemic hypoglycaemia

Galcheva S; Al-Khawaga S; Hussain K

doi:10.1530/ey.16.2.5

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ESPE Yearbook of Paediatric Endocrinology (2019) 16 2.5 | DOI: 10.1530/ey.16.2.5

ESPEYB16 2. Antenatal and Neonatal Endocrinology Neonatal Hypoglycaemia (5 abstracts)

2.5. Diagnosis and management of hyperinsulinaemic hypoglycaemia

Galcheva S , Al-Khawaga S & Hussain K

To read the full abstract: Best Pract Res Clin Endocrinol Metab. 2018 Aug;32(4):551–573.

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.