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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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Impaired copper absorption → defective cross‑linking of collagen & elastin.
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Pathophysiology
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X‑linked recessive ATP7A mutation; ↓activity of lysyl oxidase (copper cofactor).
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Presentation
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Brittle “kinky” hair, growth retardation, hypotonia, seizures, hypothermia, early death.
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Diagnosis
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Low serum copper & ceruloplasmin; ATP7A gene testing.
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Management
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Parenteral copper histidinate; supportive care.
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Epidemiology
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Ultra‑rare.
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Tags
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