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Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation
Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the ge...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8227506/ https://www.ncbi.nlm.nih.gov/pubmed/34200146 http://dx.doi.org/10.3390/medicina57060582 |
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author | Kim, Jee-Min Kim, Seul-Ki Kim, Shin-Hee Cho, Won-Kyoung Cho, Kyoung-Soon Jung, Min-Ho Suh, Byung-Kyu Ahn, Moon-Bae |
author_facet | Kim, Jee-Min Kim, Seul-Ki Kim, Shin-Hee Cho, Won-Kyoung Cho, Kyoung-Soon Jung, Min-Ho Suh, Byung-Kyu Ahn, Moon-Bae |
author_sort | Kim, Jee-Min |
collection | PubMed |
description | Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a PAX6 mutation, born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. This patient provides novel evidence that connects PAX6 to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of PAX6 in glucose metabolism and insulin regulation should be further investigated. |
format | Online Article Text |
id | pubmed-8227506 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-82275062021-06-26 Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation Kim, Jee-Min Kim, Seul-Ki Kim, Shin-Hee Cho, Won-Kyoung Cho, Kyoung-Soon Jung, Min-Ho Suh, Byung-Kyu Ahn, Moon-Bae Medicina (Kaunas) Case Report Prolonged hyperinsulinemic hypoglycemia in infancy can result in developmental sequelae. A mutation in the paired box-6 gene (PAX6) has been reported to cause disorders in oculogenesis and neurogenesis. A limited number of cases of diabetes mellitus in adults with a PAX6 mutation suggest that the gene also plays a role in glucose homeostasis. The present case report describes a boy with a PAX6 mutation, born with anophthalmia, who underwent hypoglycemic seizures starting at 5 months old, and showed a prediabetic condition at 60 months. This patient provides novel evidence that connects PAX6 to glucose homeostasis and highlights that life-threatening hypoglycemia or early onset glucose intolerance may be encountered. The role of PAX6 in glucose metabolism and insulin regulation should be further investigated. MDPI 2021-06-07 /pmc/articles/PMC8227506/ /pubmed/34200146 http://dx.doi.org/10.3390/medicina57060582 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Kim, Jee-Min Kim, Seul-Ki Kim, Shin-Hee Cho, Won-Kyoung Cho, Kyoung-Soon Jung, Min-Ho Suh, Byung-Kyu Ahn, Moon-Bae Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation |
title | Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation |
title_full | Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation |
title_fullStr | Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation |
title_full_unstemmed | Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation |
title_short | Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation |
title_sort | transient hyperinsulinemic hypoglycemia linked to pax6 mutation |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8227506/ https://www.ncbi.nlm.nih.gov/pubmed/34200146 http://dx.doi.org/10.3390/medicina57060582 |
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