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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.

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.
AuthorsLindsey A Loomba-Albrecht, Maryam Jame, Andrew A Bremer
JournalDiabetes research and clinical practice (Diabetes Res Clin Pract) Vol. 87 Issue 3 Pg. e23-5 (Mar 2010) ISSN: 1872-8227 [Electronic] Ireland
PMID20015564 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Blood Glucose
  • C-Peptide
  • Hypoglycemic Agents
  • Sulfonylurea Compounds
  • glimepiride
  • Glucokinase
Topics
  • Adolescent
  • Area Under Curve
  • Blood Glucose (genetics, metabolism)
  • C-Peptide (blood, genetics)
  • Child, Preschool
  • Diabetes Mellitus, Type 2 (drug therapy, genetics)
  • Genetic Predisposition to Disease
  • Glucokinase (genetics)
  • Glucose Tolerance Test
  • Humans
  • Hypoglycemic Agents (therapeutic use)
  • Male
  • Mutation
  • Sulfonylurea Compounds (therapeutic use)

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