Question

A 40-year-old man is a known case of glycogen storage disease Type IA (von Gierke's disease); he presents with constant pain in his right lower leg. The pain started shortly after lunch of that day, and it is located at the mid-tibia level. He denies a previous history of a similar pain, and he does not remember any recent trauma to the area. Examination reveals a well-developed man with obvious discomfort in his right leg. His vital signs are unremarkable. He has numerous tophi on the extensor surfaces of his limbs. Pertinent positive findings are confined to his swollen right lower leg; the patient holds it still. The leg has point tenderness to palpation and motion along the anterior tibia, approximately midway between the tibial tuberosity and the anterior ankle crease. Radiological examination of the leg shows a non-displaced fracture of the right tibia corresponding to the point of maximum tenderness. All bone elements show demineralization by radiological examination. Chronic metabolic acidosis is the cause for these bone changes in this patient. What is the cause of chronic metabolic acidosis in this case?

1. High lactate levels
2. Leaching of inorganic phosphates from bones
3. Increased uric acid levels in the blood
4. Large glycogen stores in the liver
5. Large glycogen stores in the kidneys

Answer 1

In a patient with glycogen storage disease Type IA, the cause of chronic metabolic acidosis is high lactate levels.

Step-by-step explanation:

In a patient with glycogen storage disease Type IA (von Gierke's disease), the cause of chronic metabolic acidosis is high lactate levels. This condition is characterized by a deficiency of glucose-6-phosphatase, leading to impaired glucose metabolism and an accumulation of glycogen in various tissues. In the liver, the excessive glycogen accumulation leads to impaired gluconeogenesis and increased lactate production, resulting in metabolic acidosis.