title: 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.
authors.affiliation: Department of Pediatrics, Division of Endocrinology, University of California Davis Medical Center, Sacramento, CA 95817-2208, United States.
authors.forename: Lindsey A
authors.initials: LA
authors.lastname: Loomba-Albrecht
authors.forename: Maryam
authors.initials: M
authors.lastname: Jame
authors.forename: Andrew A
authors.initials: AA
authors.lastname: Bremer
mesh_terms: D000293:Adolescent; D019540:Area Under Curve; D001786:Blood Glucose / Q000235:genetics / Q000378:metabolism*; D002096:C-Peptide / Q000097:blood* / Q000235:genetics; D002675:Child, Preschool; D003924:Diabetes Mellitus, Type 2 / Q000188:drug therapy / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005941:Glucokinase / Q000235:genetics*; D005951:Glucose Tolerance Test; D006801:Humans; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D008297:Male; D009154:Mutation; D013453:Sulfonylurea Compounds / Q000627:therapeutic use
chemical_list: D001786:Blood Glucose; D002096:C-Peptide; D007004:Hypoglycemic Agents; D013453:Sulfonylurea Compounds; C057619:glimepiride; D005941:Glucokinase