Which of the following are disorders of copper metabolism?
**Core Concept**
Copper is an essential trace element that plays a crucial role in various bodily functions, including connective tissue health, immune function, and neurotransmitter synthesis. Disorders of copper metabolism can lead to either copper deficiency or copper toxicity, resulting in a range of clinical manifestations.
**Why the Correct Answer is Right**
Wilson's disease, also known as hepatolenticular degeneration, is a genetic disorder characterized by excessive accumulation of copper in the body due to mutations in the ATP7B gene. This leads to copper toxicity in the liver, brain, and other organs, causing symptoms such as liver disease, neurological impairment, and Kayser-Fleischer rings. The ATP7B gene encodes a copper-transporting ATPase responsible for regulating copper levels in the bloodstream and liver.
**Why Each Wrong Option is Incorrect**
**Option A:** Hemochromatosis is a disorder of iron metabolism, not copper. It results from mutations in the HFE gene, leading to excessive iron absorption and accumulation in the body.
**Option B:** Menkes disease is a disorder of copper metabolism, but it is caused by mutations in the ATP7A gene, which leads to copper deficiency rather than toxicity.
**Option C:** Aceruloplasminemia is a disorder of iron metabolism, characterized by mutations in the CP gene, leading to decreased iron transport and accumulation of iron in the body.
**Clinical Pearl / High-Yield Fact**
Wilson's disease is a classic example of a disorder where the genetic defect leads to an accumulation of a toxic substance, highlighting the importance of genetic testing in the diagnosis of this condition.
**Correct Answer: C. Menkes disease**