Question:medium
Menkes disease is associated with deficiency of which enzyme?
Menkes disease is associated with deficiency of which enzyme?
Show Hint
Copper deficiency knocks out the collagen cross-linking enzyme.
Updated On: Jun 23, 2026
- Lysyl oxidase
- Methionine synthase
- Glutamyl aminopeptidase
- Lysyl hydroxylase
Show Solution
The Correct Option is A
Solution and Explanation
Step 1: The core defect in Menkes disease is faulty copper transport. A mutated ATP7A pump traps copper and starves tissues of this trace metal.
Step 2: Copper-requiring enzymes lose function as a result. The connective-tissue enzyme that cross-links collagen and elastin - lysyl oxidase - is copper dependent, so its activity collapses.
Step 3: Weak cross-linking explains the brittle bones, fragile vessels, and characteristic kinky hair. Methionine synthase (B12-dependent), glutamyl aminopeptidase, and lysyl hydroxylase (vitamin C dependent) are not the copper-linked target. The answer is lysyl oxidase.\[\boxed{Lysyl\ oxidase}\]
Step 2: Copper-requiring enzymes lose function as a result. The connective-tissue enzyme that cross-links collagen and elastin - lysyl oxidase - is copper dependent, so its activity collapses.
Step 3: Weak cross-linking explains the brittle bones, fragile vessels, and characteristic kinky hair. Methionine synthase (B12-dependent), glutamyl aminopeptidase, and lysyl hydroxylase (vitamin C dependent) are not the copper-linked target. The answer is lysyl oxidase.\[\boxed{Lysyl\ oxidase}\]
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