Which condition is an autosomal recessive disorder of copper metabolism with excessive copper deposition in the liver, brain, and other tissues?

Which condition is an autosomal recessive disorder of copper metabolism with excessive copper deposition in the liver, brain, and other tissues?

• A. Hemochromatosis
• B. Amyloid Disease
• C. Von Gierke Disease
• D. Wilson's Disease

Answer: (D)

This is about a genetic disorder of copper handling that leads to copper build-up in several organs, especially the liver and brain. Wilson’s disease arises from mutations in the ATP7B gene, inherited in an autosomal recessive pattern. This defect disrupts copper excretion into bile and its incorporation into ceruloplasmin, so copper accumulates in hepatocytes and then spills over to other tissues, including the brain and cornea. Clinically, you may see hepatic dysfunction early in life and neuropsychiatric symptoms as it progresses, along with distinctive Kayser-Fleischer rings in the cornea and low serum ceruloplasmin levels. Treatments focus on removing excess copper (copper chelators) and reducing copper intake. The other options describe conditions unrelated to copper metabolism: one involves iron overload, another is a protein-amyloid deposition disorder, and the last is a glycogen storage disease with distinct metabolic features. Only Wilson’s disease fits autosomal recessive copper accumulation in the liver and brain.

This is about a genetic disorder of copper handling that leads to copper build-up in several organs, especially the liver and brain. Wilson’s disease arises from mutations in the ATP7B gene, inherited in an autosomal recessive pattern. This defect disrupts copper excretion into bile and its incorporation into ceruloplasmin, so copper accumulates in hepatocytes and then spills over to other tissues, including the brain and cornea.

Clinically, you may see hepatic dysfunction early in life and neuropsychiatric symptoms as it progresses, along with distinctive Kayser-Fleischer rings in the cornea and low serum ceruloplasmin levels. Treatments focus on removing excess copper (copper chelators) and reducing copper intake.

The other options describe conditions unrelated to copper metabolism: one involves iron overload, another is a protein-amyloid deposition disorder, and the last is a glycogen storage disease with distinct metabolic features. Only Wilson’s disease fits autosomal recessive copper accumulation in the liver and brain.