Clinical findings

Serum/blood tests

Urine copper

ATP7B mutation

Liver biopsy

Score

Homozygous

4 points

– KF rings

– Severe neurologic symptomsa

Ceruloplasmin <0.1 g/L

– >2 × ULN

– Normal but >5 × ULN after penicillamine

Copper >5 × ULN (>4 micromol/g)

2 points each

Mild neurologic symptoms

– Ceruloplasmin 0.1-0.2 g/L

– Hemolytic anemia

1-2 × ULN

Heterozygous

– Copper 0.8-4 micromol/g

– Rhodanine-positive granulesb

1 point each

Normal copper (<0.8 micromol/g)

−1 point

Interpretation:

Score ≥4: Wilson disease probable

Score 3: Inconclusive

Score ≤2: Wilson disease unlikely

a Or typical abnormalities on brain MRI.

b If no quantitative liver copper available.