• J Postgrad Med · Oct 2019

    Case Reports

    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, and Z Zhang.
    • Department of Endocrinology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
    • J Postgrad Med. 2019 Oct 1; 65 (4): 241-243.

    AbstractWe 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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