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Card
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Title
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Menkes Disease
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ImagePath
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System
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copper transport disorder
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Overview
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X‑linked recessive disorder of copper absorption/transport.
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Pathophysiology
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ATP7A mutation → defective intestinal copper efflux → ↓ copper in blood & brain → ↓ lysyl oxidase activity → impaired collagen cross‑linking.
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Presentation
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Hypotonia, seizures, growth retardation, intellectual disability, brittle ‘kinky’ hair, hypopigmentation, early death.
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Diagnosis
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Low serum copper & ceruloplasmin; molecular testing of ATP7A.
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Management
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Parenteral copper histidinate may slow neurodegeneration if started neonatally.
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Epidemiology
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≈ 1 : 100 000 male births.
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Tags
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