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| CASE REPORT |
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| Year : 2019 | Volume
: 65
| Issue : 4 | Page : 241-243 |
Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY)
W Zhou, M Chen, H Zhou, Z Zhang
Department of Endocrinology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China
Correspondence Address:
M Chen
Department of Endocrinology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang
China
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jpgm.JPGM_166_19
We report a 24-year-old female with early-onset and persistent mild fasting hyperglycemia due to glucokinase-maturity-onset diabetes of the young (GCK-MODY). A c.505A>G (p. Lys169Glu) missense mutation of the GCK gene was identified. In silico analysis indicated that the mutation affected a conserved amino acid and is disease-causing. This report describes GCK-MODY in a Chinese family and stresses that in managing this condition it is important to avoid unnecessary drug treatment and excessive anxiety about mild hyperglycemia.
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