Type of inheritance of Wilson desease is?
**Core Concept**
Wilson disease is a rare genetic disorder characterized by excessive accumulation of copper in the body, particularly in the liver, brain, and other vital organs. It is caused by mutations in the ATP7B gene, which plays a crucial role in regulating copper transport and metabolism.
**Why the Correct Answer is Right**
The correct answer is **D. Autosomal Recessive**. Wilson disease is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated ATP7B gene (one from each parent) to express the disease. This is in contrast to autosomal dominant disorders, where a single copy of the mutated gene is sufficient to cause the disease. The ATP7B gene provides instructions for making a protein that helps transport copper out of cells and into the bile for excretion. Mutations in this gene disrupt this process, leading to copper accumulation and the characteristic symptoms of Wilson disease.
**Why Each Wrong Option is Incorrect**
* **Option A:** Wilson disease is not inherited in an X-linked recessive pattern, which would typically involve a mutation on the X chromosome and affect males more frequently than females.
* **Option B:** Wilson disease is not inherited in an autosomal dominant pattern, which would require only one copy of the mutated ATP7B gene to cause the disease.
* **Option C:** Wilson disease is not inherited in a mitochondrial pattern, which would involve mutations in mitochondrial DNA and primarily affect tissues with high energy demands, such as the brain and muscles.
**Clinical Pearl / High-Yield Fact**
Wilson disease is often referred to as a "disease of copper overload," and its diagnosis can be confirmed by measuring the levels of ceruloplasmin, a copper-containing protein in the blood, as well as performing a 24-hour urine copper test.
**Correct Answer: D. Autosomal Recessive**