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Title
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Glucokinase deficiency
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ImagePath
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System
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glycolytic enzyme defect
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Overview
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Heterozygous loss‑of‑function GCK mutation causing mild chronic hyperglycemia (MODY‑2).
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Pathophysiology
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Glucokinase acts as β‑cell glucose sensor. Loss increases glucose threshold for insulin release.
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Presentation
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Fasting glucose 100‑145 mg/dL, mild gestational diabetes; microvascular complications rare.
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Diagnosis
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Family history of mild diabetes, stable HbA1c < 7.5%; confirmed by GCK sequencing.
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Management
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Usually none; diet/exercise; insulin in pregnancy if fetal overgrowth.
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Epidemiology
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1–2% of gestational diabetes cases.
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Tags
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