Definition

A genetic disorder where the body cannot remove excess copper, causing copper to build up and damage organs.

Cause

  • Autosomal recessive
  • Mutation in ATP7B gene
  • Leads to ↓ copper excretion in bile

Organs Affected

  • Liver
  • Brain
  • Eyes

Symptoms

Liver

  • Raised liver enzymes
  • Hepatitis
  • Jaundice
  • Cirrhosis
  • Acute liver failure (especially in young patients)

Brain

  • Tremor
  • Movement disorders
  • Slurred speech
  • Dementia

Eyes

  • Kayser–Fleischer rings (green-brown ring at cornea)

Investigations

  • Low ceruloplasmin
  • High copper levels
  • Slit-lamp eye exam

Management

  • Copper-chelating drugs
  • Zinc therapy
  • Liver transplant if severe liver failure
     

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For more information:

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Contact no: 9724575599

Aagneya Ayurveda Panchkarma Hospital

www.drprajapatis.com

All mediclaim facilities are available.