Inheritance
- Autosomal recessive
Pathology
Copper incorporation into caeruloplasmin in hepatocytes and and its excretion into bile is impaired so copper is deposited into organs (firstly liver, then basal ganglia)
Clinical
- Presents in children with liver failure/jaundice
- Presents in young adults with CNS signs e.g. ataxia, tremor, dysarthria
- Eyes: kayser fleischer rings (gold ring around iris)
Investigations
- 24 hr urinary copper excretion high
- Serum copper and caeruloplasmin levels low
- Liver Biopsy
- MRI: basal ganglia degeneration
Management
- Life long Penicillamine (copper chelation)