## Core Concept
Lysosomal storage diseases (LSDs) are a group of genetic disorders caused by deficiencies in lysosomal enzymes or other proteins, leading to accumulation of substrates within lysosomes. Most LSDs follow an autosomal recessive inheritance pattern, but there are exceptions.
## Why the Correct Answer is Right
Hunter syndrome, also known as Mucopolysaccharidosis type II (MPS II), is caused by a deficiency of the enzyme iduronate-2-sulfatase. This disorder is inherited in an X-linked recessive pattern, not autosomal recessive. The gene responsible for Hunter syndrome is located on the X chromosome, making it the correct exception.
## Why Each Wrong Option is Incorrect
* **Option A:** Most LSDs, such as Gaucher disease and Tay-Sachs disease, are indeed autosomal recessive.
* **Option B:** Similarly, Fabry disease, though having some unique characteristics due to its X-linked nature in males, doesn't fit as the sole exception here; however, its common inheritance isn't the focus.
* **Option C:** This option does not provide a clear reason to eliminate without specific context.
## Clinical Pearl / High-Yield Fact
A key point to remember is that while most lysosomal storage diseases are inherited in an autosomal recessive manner, Hunter syndrome (Mucopolysaccharidosis type II) stands out as an X-linked recessive disorder. This is crucial for genetic counseling and understanding the risk of transmission.
**Correct Answer: D. Hunter syndrome.**
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