## **Core Concept**
Fanconi-Bickel syndrome is a rare genetic disorder characterized by the impaired metabolism of glucose and galactose. It is primarily associated with defects in glucose and galactose transport and metabolism. The condition results from mutations in a specific gene crucial for the function of glucose transporter 2 (GLUT2).
## **Why the Correct Answer is Right**
The correct answer involves the gene that encodes for **GLUT2**, which is essential for glucose and galactose transport across cell membranes, particularly in hepatocytes, enterocytes, and renal tubular cells. Mutations in the **SLC2A2** gene, which encodes GLUT2, lead to Fanconi-Bickel syndrome. This condition manifests with severe hypoglycemia, hepatomegaly, and renal tubular dysfunction, among other symptoms.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Incorrect because it does not correspond to the gene associated with Fanconi-Bickel syndrome.
- **Option B:** Incorrect as it is not related to the specific genetic defect causing Fanconi-Bickel syndrome.
- **Option C:** This could potentially be correct based on the context that Fanconi-Bickel syndrome is indeed associated with **SLC2A2** mutations.
## **Clinical Pearl / High-Yield Fact**
A key clinical feature of Fanconi-Bickel syndrome is the presence of **hepatomegaly** and **severe hypoglycemia** due to the inability of cells to properly uptake glucose. Early diagnosis and management are crucial to prevent long-term complications.
## **Correct Answer:** C. SLC2A2.
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