Extreme copper deficiency is seen in what fatal condition?

Extreme copper deficiency is seen in what fatal condition?

• A. Menkes disease
• B. Klinefelter's syndrome
• C. Meese disease
• D. Kayser-Fleischer rings

Answer: (A)

Copper metabolism depends on proper absorption and distribution to tissues by copper-transporting proteins. When this system fails, copper becomes deficient in organs and in copper-dependent enzymes, leading to widespread dysfunction. Extreme copper deficiency is seen in Menkes disease, an X-linked disorder caused by mutations in the ATP7A gene that disrupt intestinal copper absorption and its delivery to tissues. This results in very low serum copper and ceruloplasmin, impaired activity of copper-dependent enzymes, and severe neurodegeneration with failure to thrive in infancy, often leading to early death. This is different from conditions like Kayser-Fleischer rings, which reflect copper accumulation seen in Wilson disease, not deficiency. And the other listed possibilities do not describe a copper-deficiency state.

Copper metabolism depends on proper absorption and distribution to tissues by copper-transporting proteins. When this system fails, copper becomes deficient in organs and in copper-dependent enzymes, leading to widespread dysfunction.

Extreme copper deficiency is seen in Menkes disease, an X-linked disorder caused by mutations in the ATP7A gene that disrupt intestinal copper absorption and its delivery to tissues. This results in very low serum copper and ceruloplasmin, impaired activity of copper-dependent enzymes, and severe neurodegeneration with failure to thrive in infancy, often leading to early death.

This is different from conditions like Kayser-Fleischer rings, which reflect copper accumulation seen in Wilson disease, not deficiency. And the other listed possibilities do not describe a copper-deficiency state.