Article
Childhood-onset mild diabetes caused by a homozygous novel variant in the glucokinase gene.
Hormones (Athens, Greece) - 1 Mar 2022
Filibeli Berna Eroğlu, Çatli Gönül, Ayranci İlkay, Manyas Hayrullah, Kirbiyik Özgür, Dündar Bumin
Abstract excerpt
PURPOSE: Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause MODY 2, which is characterized by asymptomatic fasting hyperglycemia and does not require insulin treatment. Conversely, homozygous loss-of-function mutations in the same gene give rise to permanent neonatal diabetes mellitus (DM) that appears in the first 6-9 months of life and necessitates lifelong insulin treatment. We aimed...
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