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Variability in the age at diagnosis of diabetes in two unrelated patients with a homozygous glucokinase gene mutation.
- Source :
-
Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2012; Vol. 25 (7-8), pp. 805-8. - Publication Year :
- 2012
-
Abstract
- Homozygous mutations in the glucokinase gene (GCK) result in a complete deficiency of the GCK enzyme, which leads to permanent neonatal diabetes mellitus. Whilst there has been one report of a patient (with a homozygous p.T168A) who was diagnosed with diabetes at the age of 2 months, all other cases were diagnosed with diabetes within the first 2 weeks of life. We now report a second unrelated patient with the same p.T168A GCK mutation who was diagnosed with diabetes at the age of 9 months. We conclude that the specific GCK mutation, as yet unidentified genetic modifiers, and/or environmental factors might have different effects on pancreatic beta-cell functions, causing variability in the age at diagnosis of diabetes.
Details
- Language :
- English
- ISSN :
- 0334-018X
- Volume :
- 25
- Issue :
- 7-8
- Database :
- MEDLINE
- Journal :
- Journal of pediatric endocrinology & metabolism : JPEM
- Publication Type :
- Academic Journal
- Accession number :
- 23155716
- Full Text :
- https://doi.org/10.1515/jpem-2012-0077