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Title
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Von Gierke Disease (GSD I)
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ImagePath
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System
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Glycogen storage disease
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Overview
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AR deficiency of glucose‑6‑phosphatase in liver & kidney → impaired glycogenolysis & gluconeogenesis.
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Pathophysiology
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Glycogen accumulates in liver, severe fasting hypoglycemia, ↑ lactic acid.
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Presentation
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3–4 mo: doll‑like face, hepatomegaly, severe fasting hypoglycemia → seizures, ↑ lactate, ↑ uric acid, ↑ TG; renal enlargement.
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Diagnosis
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Labs as above; enzyme assay / G6PC mutation.
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Management
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Frequent oral glucose/cornstarch; avoid fructose & galactose; liver transplant for severe cases.
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Epidemiology
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Tags
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