G-6- Phosphatase deficiency is seen in:
**Core Concept**
G-6-Phosphatase deficiency is a rare genetic disorder that affects the enzyme glucose-6-phosphatase, which is crucial for the final step of gluconeogenesis and glycogenolysis. This enzyme catalyzes the conversion of glucose-6-phosphate to glucose, allowing glucose to be released into the bloodstream. A deficiency in this enzyme leads to an inability to maintain normal blood glucose levels.
**Why the Correct Answer is Right**
The correct answer is a condition characterized by an inability to convert glucose-6-phosphate to glucose, resulting in a buildup of glucose-6-phosphate and an inability to maintain normal blood glucose levels. This condition is associated with increased levels of lactic acid, uric acid, and phosphates due to the accumulation of intermediates in the glycolytic pathway. The enzyme glucose-6-phosphatase is essential for the regulation of glucose levels in the body, and its deficiency leads to a condition known as von Gierke's disease.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it is not directly related to G-6-Phosphatase deficiency.
**Option B:** This option is incorrect because it is a different type of glycogen storage disorder that affects the glycogen synthase enzyme.
**Option C:** This option is incorrect because it is a condition caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase, not G-6-Phosphatase.
**Clinical Pearl / High-Yield Fact**
It's essential to remember that G-6-Phosphatase deficiency is a rare genetic disorder that can lead to severe hypoglycemia, lactic acidosis, and an increased risk of infections due to a weakened immune system.
**Correct Answer:** D. von Gierke's disease