Menke disease is associated with
**Core Concept**
Menke disease is a rare, inherited disorder characterized by a deficiency of the copper-transporting enzyme ATP7A, leading to copper accumulation in various organs and tissues. This results in a complex clinical presentation involving impaired brain development, connective tissue defects, and failure to thrive.
**Why the Correct Answer is Right**
The correct answer is associated with the disorder's pathophysiology. Menke disease is caused by mutations in the ATP7A gene, which encodes the ATP7A protein responsible for transporting copper into the Golgi apparatus for incorporation into various enzymes and proteins. Without functional ATP7A, copper accumulates in the lysosomes, causing cellular damage and tissue dysfunction.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because Wilson disease, not Menke disease, is associated with a deficiency of the copper-transporting enzyme ATP7B. Wilson disease involves impaired copper excretion due to mutations in the ATP7B gene.
**Option B:** This option is incorrect because Acrodermatitis enteropathica is a different disorder related to zinc absorption, not copper metabolism. It is caused by mutations in the SLC39A4 gene, which encodes a zinc transporter.
**Option C:** This option is incorrect because Cystic fibrosis is a genetic disorder involving mutations in the CFTR gene, which encodes a chloride channel. It is not related to copper metabolism or Menke disease.
**Clinical Pearl / High-Yield Fact**
Menke disease is a classic example of a disorder caused by a defect in metal ion transport, highlighting the importance of copper in various cellular processes and the consequences of its dysregulation.
**Correct Answer:** D. Menkes disease