Wilson’s Disease

Which element is in excess in Wilson’s disease?

Copper

What is the mode of inheritance of Wilson’s disease?

Autosomal recessive

On which chromosome is the affected gene?

Chromosome 13

In which protein is the mutation?

Wilson disease protein – ATP7B copper-blinding protein

What is an important hepatic complication of Wilson’s disease?

Chronic hepatitis leading to cirrhosis

What is the initial blood test of choice in the investigation of Wilson’s disease?

Serum caeruloplasmin

How is the serum caeruloplasmin level affected in Wilson’s disease?

Reduced

How is serum free copper level affected?

Elevated

How is 24-hour urinary copper excretion affected?

Elevated: >100 µg/24hr

List 5 copper-containing food which should be avoided

1) Shellfish

2) Liver

3) Mushrooms

4) Nuts

5) Chocolate

What medication can be used for the treatment of Wilson’s disease?

Penicillamine – for copper chelation