Von Gierke (Type I)
Von Gierke Disease, also called glycogen storage disease type I (GSD-I), is an autosomal recessive metabolic disorder caused by a deficiency of glucose-6-phosphatase.
The deficiency of glucose-6-phosphatase results in inability to convert glucose-6-phosphate to glucose, impairing both glycogenolysis and gluconeogenesis. Therefore, patients with von Gierke disease have severe fasting hypoglycemia and accumulation of glycogen. Hypoglycemia may lead to seizures, whereas glycogen accumulation manifests as hepatomegaly. Additionally, low levels of circulating glucose lead to low levels of insulin and subsequent hypertriglyceridemia. Moreover, the impairment of gluconeogenesis leads the accumulation of pyruvate, impairing the conversion of lactate into pyruvate (see Pyruvate Metabolism). This manifests clinically as lactic acidosis, an important finding in acute von Gierke disease. Since lactic acid competes with uric acid for transport in the renal tubules, uric acid also builds up in the body. The uric acid may precipitate in the joints, leading to gout .
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