GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2

AUTHORS

Shahab Noorian 1 , Fatemeh Sayarifard 2 , Elham Farhadi 3 , Fabrizio Barbetti 4 , Nima Rezaei 5 , *

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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, Iran J Pediatr. 2013 ; 23(2):226-228.

ARTICLE INFORMATION

Iranian Journal of Pediatrics: 23 (2); 226-228
Published Online: January 10, 2013
Article Type: Case Report
Received: April 11, 2012
Accepted: December 29, 2012

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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.

 

Keywords

Maturity-onset Diabetes GCK Fasting Hyperglycemia Diabetes

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