What condition is characterized by glucose-6 phosphatase deficiency?

What condition is characterized by glucose-6 phosphatase deficiency?

• A. Von Gierke disease
• B. Fucosidosis
• C. Sialidosis
• D. Hurler syndrome

Answer: (A)

The condition characterized by glucose-6 phosphatase deficiency is Von Gierke disease. This is a type of glycogen storage disease, specifically classified as type I, where the inability to convert glucose-6-phosphate to glucose results in the accumulation of glycogen in the liver and kidneys. This deficiency impairs gluconeogenesis and glycogenolysis, leading to severe hypoglycemia, especially during fasting. Patients often present with symptoms such as hepatomegaly, growth retardation, and lactic acidosis due to the increased lactate from anaerobic glycolysis. The metabolic disturbance in Von Gierke disease highlights the essential role of glucose-6 phosphatase in maintaining blood glucose levels, particularly during periods without food intake.

The condition characterized by glucose-6 phosphatase deficiency is Von Gierke disease. This is a type of glycogen storage disease, specifically classified as type I, where the inability to convert glucose-6-phosphate to glucose results in the accumulation of glycogen in the liver and kidneys. This deficiency impairs gluconeogenesis and glycogenolysis, leading to severe hypoglycemia, especially during fasting.

Patients often present with symptoms such as hepatomegaly, growth retardation, and lactic acidosis due to the increased lactate from anaerobic glycolysis. The metabolic disturbance in Von Gierke disease highlights the essential role of glucose-6 phosphatase in maintaining blood glucose levels, particularly during periods without food intake.