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Review
. 2024 Nov 26:17:4439-4452.
doi: 10.2147/DMSO.S482056. eCollection 2024.

Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations

Salsabeel H Sabi  1 , Roaa K Alzreqat  2 , Ammar M Almaaytah  3 , Majed M Masaadeh  3 , Ahmad Khaled Abualhaijaa  3
Affiliations
Review

Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations

Salsabeel H Sabi et al. Diabetes Metab Syndr Obes. .

Abstract

Hyperinsulinemic Hypoglycemia (HH) is a rare condition that affects newborn children in the postnatal period, represented by dangerously low levels of blood glucose in a persistent manner, which puts the baby at high risk of multiple issues, especially regarding the brain cells if the baby does not take the appropriate medication or have the correct diagnosis. Hyperinsulinemic Hypoglycemia can happen due to an active or inactive mutation in 16 genes responsible for glucose metabolism and insulin secretion (GLUD1, GCK, SLC16A1, HK1, CACNA1D, KCNJ11, ABCC8, FOXA2, HNF1A, HNF4A, HADH, PGM1, UCP2, KCNQ1, PMM2, EIF2S3). These mutations can take place in many forms, either defused or local, affecting several or all pancreatic beta cells respectively. This review summarizes genetic variations diagnosis and treatment of Hyperinsulinemic Hypoglycemia.

Keywords: FOXA2; GLUD1; Hyperinsulinemic Hypoglycemia; hexokinase; nesidioblastosis.

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Conflict of interest statement

The authors report no conflicts of interest in this work.

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