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Genetic Variations in Hyperinsulinemic Hypoglycemia: Active versus Inactive Mutations. | LitMetric

AI Article Synopsis

  • Hyperinsulinemic Hypoglycemia (HH) is a rare condition in newborns characterized by low blood glucose levels, posing serious risks particularly to brain health without proper treatment.
  • It can be caused by mutations in 16 genes related to glucose metabolism and insulin release, which can affect pancreatic beta cells either diffusely or locally.
  • The review focuses on genetic variations, diagnosis, and treatment options for Hyperinsulinemic Hypoglycemia.

Article 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 (, , , , , , , , , , , , , , , ). 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11607999PMC
http://dx.doi.org/10.2147/DMSO.S482056DOI Listing

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