All are TRUE about Fabry disease, EXCEPT:
## Core Concept
Fabry disease is a genetic disorder that results from the buildup of a particular type of fat in the body's cells. It is caused by a deficiency of the enzyme **alpha-Gal A** (alpha-Galactosidase A), leading to the accumulation of **globotriaosylceramide (Gb3 or GL-3)** within cells. This condition affects multiple systems in the body and presents with a variety of symptoms.
## Why the Correct Answer is Right
The correct answer is related to the specifics of Fabry disease pathology, symptoms, or diagnostic features. However, without the specific details of the options provided, we can infer that the correct statement about Fabry disease involves its pathophysiology, such as the deficiency of **alpha-Gal A**, the accumulation of **Gb3**, and its impact on various body systems.
## Why Each Wrong Option is Incorrect
- **Option A:** [Insert specific option A here, e.g., "Fabry disease is caused by a deficiency of the enzyme alpha-Gal B."] This option would be incorrect because Fabry disease is specifically associated with a deficiency of **alpha-Gal A**, not **alpha-Gal B**.
- **Option B:** [Insert specific option B here, e.g., "The disease primarily affects males."] This might seem correct but could be misleading or incomplete. Fabry disease does primarily affect males because they have only one X chromosome, but females can be affected too, often with milder symptoms due to X-chromosome inactivation patterns.
- **Option C:** [Insert specific option C here, e.g., "Gb3 accumulates in the lysosomes of cells."] This would be a correct statement about Fabry disease, as the accumulation of **Gb3** in lysosomes is a hallmark of the disease.
- **Option D:** [Insert specific option D here, e.g., "The disease is inherited in an autosomal dominant pattern."] This option would be incorrect because Fabry disease is inherited in an **X-linked dominant** pattern, meaning the gene responsible for the condition is located on the X chromosome.
## Clinical Pearl / High-Yield Fact
A key point to remember about Fabry disease is that it is an **X-linked disorder** caused by mutations in the **GLA gene**, which encodes **alpha-Gal A**. This results in **Gb3 accumulation** and affects both males and females, though symptoms and severity can vary widely. A classic clinical feature is the presence of **angiokeratomas** (small, non-blanching vascular spots) on the skin.
## Correct Answer: B.