**Core Concept**
The underlying condition in this scenario is related to glycogen storage and metabolism, leading to an excessive accumulation of glycogen in the liver and potentially causing hypoglycemia. This condition is characterized by the deposition of glycogen in various tissues, including the liver, resulting in an enlarged liver.
**Why the Correct Answer is Right**
The boy's symptoms are consistent with Von Gierke's disease, a glycogen storage disorder due to a deficiency of glucose-6-phosphatase. This enzyme is crucial for the final step of glycogenolysis, converting glucose-6-phosphate to glucose for release into the bloodstream. As a result, glycogen accumulates in the liver, leading to hypoglycemia, and the body resorts to breaking down fat for energy, resulting in raised levels of ketone bodies, lactic acid, and triglycerides.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because McArdle's disease is a glycogen storage disorder caused by a deficiency of myophosphorylase, affecting skeletal muscle, not the liver.
**Option B:** This option is incorrect because Pompe disease is a glycogen storage disorder caused by a deficiency of acid alpha-glucosidase, affecting lysosomes, not the liver.
**Option C:** This option is incorrect because Hers' disease is a glycogen storage disorder caused by a deficiency of phosphoglucomutase, affecting glycogen synthesis, not the breakdown of glycogen.
**Clinical Pearl / High-Yield Fact**
The key clinical feature of Von Gierke's disease is the presence of hypoglycemia despite a high level of glycogen in the liver. This is due to the inability of the liver to release glucose into the bloodstream, highlighting the importance of glucose-6-phosphatase in glycogen metabolism.
**Correct Answer:** D. Von Gierke's disease.
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.