A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome

A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome

Objective. Kabuki syndrome (KS) is associated with hyperinsulinemic hypoglycemia (HH) in 0.3–4% of patients, thus exceeding the prevalence in the general population. HH association is stronger for KS type 2 (KDM6A-KS, OMIM #300867) than KS type 1 (KMT2D-KS, OMIM #147920). Both the disease-associated...

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Bibliographic Details
Main Authors: Maines Evelina, Maiorana Arianna, Leonardi Letizia, Piccoli Giovanni, Soffiati Massimo, Franceschi Roberto
Format: Article
Language:English
Published: Sciendo 2023-01-01
Series:Endocrine Regulations
Subjects:
kabuki syndrome
hyperinsulinism
hypoglycemia
kmt2d
kdm6a
review
Online Access:https://doi.org/10.2478/enr-2023-0016

Internet

https://doi.org/10.2478/enr-2023-0016

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