A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2

Lindsey A Loomba-Albrecht; Maryam Jame; Andrew A Bremer

doi:10.1016/j.diabres.2009.11.013

A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2

Diabetes Res Clin Pract. 2010 Mar;87(3):e23-5. doi: 10.1016/j.diabres.2009.11.013. Epub 2009 Dec 16.

Authors

Lindsey A Loomba-Albrecht¹, Maryam Jame, Andrew A Bremer

Affiliation

¹ Department of Pediatrics, Division of Endocrinology, University of California Davis Medical Center, Sacramento, CA 95817-2208, United States.

PMID: 20015564
DOI: 10.1016/j.diabres.2009.11.013

Abstract

Maturity-onset diabetes of the young (MODY) is a group of disorders accounting for 2-5% of diabetes; MODY2 is caused by inactivating GCK mutations. We report a case of MODY2 caused by a novel GCK mutation and demonstrate differential glycemic/C-peptide responses to treatment with insulin, no medication, and an oral sulfonylurea.

Publication types

Case Reports

MeSH terms

Adolescent
Area Under Curve
Blood Glucose / genetics
Blood Glucose / metabolism*
C-Peptide / blood*
C-Peptide / genetics
Child, Preschool
Diabetes Mellitus, Type 2 / drug therapy
Diabetes Mellitus, Type 2 / genetics*
Genetic Predisposition to Disease
Glucokinase / genetics*
Glucose Tolerance Test
Humans
Hypoglycemic Agents / therapeutic use
Male
Mutation
Sulfonylurea Compounds / therapeutic use

Substances

Blood Glucose
C-Peptide
Hypoglycemic Agents
Sulfonylurea Compounds
glimepiride
Glucokinase