Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management

Congenital hyperinsulinemia (CHI), is a clinically heterogeneous disorder that presents as a major cause of persistent and recurrent hypoglycemia during infancy and childhood. There are 16 subtypes of CHI-related genes. Phosphomannomutase 2 hyperinsulinemia (PMM2-HI) is an extremely rare subtype whi...

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Autores principales: Chen, Congli, Sang, Yanmei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884677/
https://www.ncbi.nlm.nih.gov/pubmed/36726472
http://dx.doi.org/10.3389/fendo.2022.1102307
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author Chen, Congli
Sang, Yanmei
author_facet Chen, Congli
Sang, Yanmei
author_sort Chen, Congli
collection PubMed
description Congenital hyperinsulinemia (CHI), is a clinically heterogeneous disorder that presents as a major cause of persistent and recurrent hypoglycemia during infancy and childhood. There are 16 subtypes of CHI-related genes. Phosphomannomutase 2 hyperinsulinemia (PMM2-HI) is an extremely rare subtype which is first reported in 2017, with only 18 families reported so far. This review provides a structured description of the genetic pathogenesis, and current diagnostic and therapeutic advances of PMM2-HI to increase clinicians’ awareness of PMM2-HI.
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spelling pubmed-98846772023-01-31 Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management Chen, Congli Sang, Yanmei Front Endocrinol (Lausanne) Endocrinology Congenital hyperinsulinemia (CHI), is a clinically heterogeneous disorder that presents as a major cause of persistent and recurrent hypoglycemia during infancy and childhood. There are 16 subtypes of CHI-related genes. Phosphomannomutase 2 hyperinsulinemia (PMM2-HI) is an extremely rare subtype which is first reported in 2017, with only 18 families reported so far. This review provides a structured description of the genetic pathogenesis, and current diagnostic and therapeutic advances of PMM2-HI to increase clinicians’ awareness of PMM2-HI. Frontiers Media S.A. 2023-01-16 /pmc/articles/PMC9884677/ /pubmed/36726472 http://dx.doi.org/10.3389/fendo.2022.1102307 Text en Copyright © 2023 Chen and Sang https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Endocrinology
Chen, Congli
Sang, Yanmei
Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management
title Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management
title_full Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management
title_fullStr Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management
title_full_unstemmed Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management
title_short Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management
title_sort phosphomannomutase 2 hyperinsulinemia: recent advances of genetic pathogenesis, diagnosis, and management
topic Endocrinology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884677/
https://www.ncbi.nlm.nih.gov/pubmed/36726472
http://dx.doi.org/10.3389/fendo.2022.1102307
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