Copper Deficiency

  • Genetic form - Menkes disease (AR)
    • Mutation in gene ATP7A, which encodes ATP-dependent copper efflux protein in the intestine → copper can be absorbed into de the mucosal cell, but cannot be transported into the bloodstream
    • X-linked recessive
    • Incidence 1/100.000
    • AKA Ehlers-Danlos type IX or kinky hair syndrome
  • Pathophysiolosy
    • Collagen pathway
      • Copper is co-factor for Lysil oxidase - makes collagen rigid (not elastic)
      • Oxida a hidroxilisina e faz cross-linking covalente
  • Clinical presentation
    • Cutaneous
      • Pigment dilution (rare reports)
      • Pale skin
      • Sparse kinky hypopigmented hair
    • Non-cutaneous
      • Arterial turtuosity and rupture
      • Cerebral degeneration
      • Osteoporosis
      • Anemia
      • Bladder diverticula
  • Labs
    • Ceruloplasmin is not a Cu transporter!! It oxidizes Fe2+ to Fe3+ and requires Cu to work