Von Gierke disease Animation / Glycogen storage disease type I (GSD I) : Biochemistry USMLE Step 🔬 

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Von Gierke disease, also known as Glycogen Storage Disease Type I (GSD I), is a rare genetic disorder that affects the body's ability to break down glycogen into glucose, leading to an accumulation of glycogen in the liver and kidneys. This condition is caused by a deficiency in the enzyme glucose-6-phosphatase, crucial for the final steps of glycogenolysis and gluconeogenesis. Symptoms often appear in infancy and include hypoglycemia (low blood sugar), a swollen belly due to an enlarged liver, growth retardation, and lactic acidosis. Management involves careful dietary planning to maintain stable blood glucose levels, including frequent meals and cornstarch supplements. 🧬🔬
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