## **Core Concept**
The question tests knowledge on **mucopolysaccharidosis**, a group of metabolic disorders caused by the deficiency of enzymes needed to break down and recycle sugar molecules called glycosaminoglycans (GAGs), which include dermatan sulfate, heparan sulfate, chondroitin 4-sulfate, and chondroitin 6-sulfate.
## **Why the Correct Answer is Right**
The correct answer, **D.**, corresponds to **Multiple Sulfatase Deficiency (MSD)**, also known as **Metachromatic Leukodystrophy (MLD) with multiple sulfatase deficiency** or more accurately **Multiple Sulfatase Deficiency**. This rare condition results from mutations in the **SUMF1** gene, which encodes a protein necessary for the post-translational modification and activation of several sulfatases. These sulfatases are crucial for the breakdown of various glycosaminoglycans, including dermatan sulfate, heparan sulfate, chondroitin 4-sulfate, and chondroitin 6-sulfate. The deficiency leads to the accumulation of these GAGs, causing severe neurological and systemic symptoms.
## **Why Each Wrong Option is Incorrect**
- **Option A:** Refers to a condition but is not specified; however, given the context, it's unlikely to relate directly to a deficiency involving all listed GAGs.
- **Option B:** Could potentially refer to another form of mucopolysaccharidosis but does not specifically match the broad deficiency described.
- **Option C:** Similarly, refers to another condition but not specifically related to the combined deficiency of dermatan sulfate, heparan sulfate, chondroitin 4-sulfate, and chondroitin 6-sulfate.
## **Clinical Pearl / High-Yield Fact**
A key point to remember is that **Multiple Sulfatase Deficiency** presents with a combination of symptoms seen in several types of mucopolysaccharidosis and metachromatic leukodystrophy, making diagnosis challenging. Early recognition and genetic testing are crucial for management.
## **Correct Answer: D. Multiple Sulfatase Deficiency**
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
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