Question:
Menkes disease is associated with deficiency of which enzyme?
Menkes disease is associated with deficiency of which enzyme?
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Copper deficiency knocks out the collagen cross-linking enzyme.
Updated On: Jun 23, 2026
- Lysyl oxidase
- Methionine synthase
- Glutamyl aminopeptidase
- Lysyl hydroxylase
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The Correct Option is A
Solution and Explanation
Step 1: Menkes disease (Menkes syndrome) is an X-linked recessive disorder caused by mutations in the copper-transport protein ATP7A, leading to copper deficiency.
Step 2: Many enzymes need copper as a co-factor. Lysyl oxidase is a copper-dependent enzyme that cross-links tropocollagen into strong collagen and elastin fibrils.
Step 3: With copper unavailable, lysyl oxidase activity falls, affecting bone, skin, hair, blood vessels, and nervous tissue (the classic kinky hair and connective tissue features). So the deficient enzyme is lysyl oxidase, not methionine synthase, glutamyl aminopeptidase, or lysyl hydroxylase.
Step 2: Many enzymes need copper as a co-factor. Lysyl oxidase is a copper-dependent enzyme that cross-links tropocollagen into strong collagen and elastin fibrils.
Step 3: With copper unavailable, lysyl oxidase activity falls, affecting bone, skin, hair, blood vessels, and nervous tissue (the classic kinky hair and connective tissue features). So the deficient enzyme is lysyl oxidase, not methionine synthase, glutamyl aminopeptidase, or lysyl hydroxylase.
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