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Card
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Title
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Cori Disease (GSD III)
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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 debranching enzyme (α‑1,6‑glucosidase) → limit dextrin‑like cytosolic glycogen.
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Pathophysiology
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Gluconeogenesis intact → milder hypoglycemia but muscle, liver involvement.
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Presentation
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Infancy: hepatomegaly, moderate hypoglycemia, growth delay, cardiomyopathy, myopathy.
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Diagnosis
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Abnormal glycogen structure on biopsy; AGL gene test.
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Management
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High‑protein diet, cornstarch, cardiac monitoring; liver transplant rarely.
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Epidemiology
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Tags
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