You are treating a patient who is suffering from the glycogen storage disease known as von Gierke disease. Although the primary defect in this disease is in glucose homeostasis, which of the following other metabolic abnormalities is expected to be found in patients with this disease?
A) hyperammonemia
B) hyperuricemia
C) hypokalemia
D) hypophosphatemia
E) ketoacidosis

Question

Quizplus · Accepted Answer

Von Gierke disease is characterized by a deficiency in glucose-6-phosphatase, leading to impaired gluconeogenesis and glycogenolysis. This results in the accumulation of glucose-6-phosphate, which is shunted into the pentose phosphate pathway, increasing ribose-5-phosphate and subsequently purine synthesis. The excess purines are degraded to uric acid, leading to hyperuricemia. The metabolic consequences of the hepatic glucose-6-phosphate deficiency of von Gierke disease extend well beyond just the obvious hypoglycemia that results from the deficiency in liver in being able to deliver free glucose to the blood. The inability to release the phosphate from glucose 6-phopsphate results in diversion into glycolysis and production of pyruvate as well as increased diversion onto the pentose phosphate pathway. The production of excess pyruvate, at levels above the capacity of the TCA cycle to completely oxidize it, results in its reduction to lactate leading to lactic acidemia. In addition, some of the pyruvate is transaminated to alanine, leading to hyperalaninemia. Some of the pyruvate will be oxidized to acetyl-CoA, which cannot be fully oxidized in the TCA cycle. So the acetyl-CoA will end up in cytosol, where it will serve as a substrate for triglyceride and cholesterol synthesis resulting in hyperlipidemia. The oxidation of glucose 6-phophate via the pentose phosphate pathway leads to increased production of ribose-5-phosphate, which then activates the de novo synthesis of the purine nucleotides. In excess of the need, these purine nucleotides will ultimately be catabolized to uric acid, resulting in hyperuricemia and consequent symptoms of gout

You Are Treating a Patient Who Is Suffering from the Glycogen