Final answer:
Von Gierke's disease is a genetic disorder characterized by a deficiency of glucose-6-phosphatase, leading to the overproduction of uric acid and other symptoms related to excessive accumulation of glycogen in the liver and kidneys.
Step-by-step explanation:
Von Gierke's disease, also known as glycogen storage disease type I, is a genetic disorder characterized by a deficiency of the enzyme glucose-6-phosphatase. This enzyme deficiency leads to an inability to convert glycogen into glucose, causing the accumulation of glycogen in the liver and kidneys. The overactivity of the HMP shunt pathway is a compensatory mechanism in response to this deficiency, resulting in an overproduction of ribose-5-phosphate and subsequently an increase in uric acid levels due to increased production of PRPP.
Conditions such as excessive tissue destruction and gout can further elevate blood uric acid levels. Methods to estimate uric acid levels include the Phosphotungstic acid method, Fehling's method, and Autoanalyzer. It is essential to differentiate this disease from others like Budd-Chiari syndrome, Gilbert's syndrome, Wilson's disease, and others where the liver and metabolic pathways are affected.