<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Neonatal diabetes (ND) appears during the first months of life and is caused by a single gene mutation. It is heterogenous and very different compared to other forms of multi-factorial or polygenic diabetes. Clinically, this form is extremely severe, however, early genetic diagnosis is pivotal for successful therapy. A large palette of genes is demonstrated to be a cause of ND, however, the mechanisms of permanent hyperglycemia are different. This review will give an overview of more frequent genetic mutations causing ND, including the function of the mutated genes and the specific therapy for certain sub-forms.</p></abstract>

Neonatal diabetes (ND) appears during the first months of life and is caused by a single gene mutation. It is heterogenous and very different compared to other forms of multi-factorial or polygenic diabetes. Clinically, this form is extremely severe, however, early genetic diagnosis is pivotal for successful therapy. A large palette of genes is demonstrated to be a cause of ND, however, the mechanisms of permanent hyperglycemia are different. This review will give an overview of more frequent genetic mutations causing ND, including the function of the mutated genes and the specific therapy for certain sub-forms.

Genetic spectrum of neonatal diabetes

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

{"article-title":"Genetic spectrum of neonatal diabetes"}

Neonatal diabetes (ND) appears during the first months of life and is caused by a single gene mutation. It is heterogenous and very different compared to other...

Genetic spectrum of neonatal diabetes

Article Category: Review article

Published Online: Mar 23, 2021

Page range: 5 - 15

DOI: https://doi.org/10.2478/bjmg-2020-0027

Keywords
Classification, Mutations, Neonatal diabetes (ND), Syndromes

© 2020 Kocova M, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Genetic spectrum of neonatal diabetes

Article Category: Review article

Published Online: Mar 23, 2021

Page range: 5 - 15

DOI: https://doi.org/10.2478/bjmg-2020-0027

KeywordsClassification, Mutations, Neonatal diabetes (ND), Syndromes

© 2020 Kocova M, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Keywords
Classification, Mutations, Neonatal diabetes (ND), Syndromes