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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
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.
How to cite this article:
Zhou W, Chen M, Zhou H, Zhang Z. Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY).J Postgrad Med 2019;65:241-243
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How to cite this URL:
Zhou W, Chen M, Zhou H, Zhang Z. Heterozygous lys169Glu mutation of glucokinase gene in a Chinese family having glucokinase-maturity-onset diabetes of the young (GCK-MODY). J Postgrad Med [serial online] 2019 [cited 2023 Mar 27 ];65:241-243
Available from: https://www.jpgmonline.com/article.asp?issn=0022-3859;year=2019;volume=65;issue=4;spage=241;epage=243;aulast=Zhou;type=0 |
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