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)

 

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