Innovative Journal of Pediatrics
The Scientific Journal of Growth & Development Research Center
e-ISSN 3117-5341
Image Credit:Inn J Pediatr
Outline
GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2
Authors
Published online:Jan 10, 2013
Article type:Case Report
Received:Apr 11, 2012
Accepted:Dec 29, 2012
How to Cite:Noorian S, Sayarifard F, Farhadi E, Barbetti F, Rezaei N. GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2. Inn J Pediatr. 2013;23(2):. doi:
Abstract
Background: Maturity onset diabetes of the young type 2 (MODY) is an inherited disorder due to mutations in glucokinase (GCK) gene, which lead to mild fasting hyperglycemia.
Case Presentation: Herein an otherwise healthy 9-year old boy with hyperglycemia is presented in whom the diagnosis of MODY2 was suspected. Genetic studies showed heterozygous inactivating GCK gene mutation in exon 8 (c.1010delA) in this patient. The same mutation was found in his father as well. The patient received some dietary advices without any medication.
Conclusion: The identification of GCK mutation and diagnosis of MODY2 helps the clinicians to predict the disease course, prognosis and to exclude other types of diabetes.
Highlights
References
- 1.References are available on the PDF.
Copyright
© 2013, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
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