Which condition is a result of the deficiency of glucose-6-phosphatase?

Glucose-6-phosphatase deficiency leads to Von Gierke's disease, which is a type of glycogen storage disease. This enzyme is critical for the final step in gluconeogenesis and glycogenolysis, where glucose-6-phosphate is converted into free glucose, allowing it to be released into the bloodstream. In its absence, glucose-6-phosphate accumulates in the liver and kidneys, leading to severe hypoglycemia and an inability to utilize glycogen stores effectively.

Patients with Von Gierke's disease often present with symptoms such as fasting hypoglycemia, hepatomegaly due to glycogen accumulation, and lactic acidosis. They may also experience growth failure and metabolic derangements associated with the inability to maintain normal blood glucose levels during periods of fasting.

The other conditions listed are associated with other specific enzyme deficiencies: Pompe's disease involves acid alpha-glucosidase; McArdle's disease is due to a deficiency of muscle phosphorylase; and Cori's disease results from a deficiency of debranching enzyme. Each of these diseases has a distinct biochemical pathway impacted by their respective enzyme deficiencies, which is why they are separate from Von Gierke's disease caused by glucose-6