Table 1 Scoring system on Wilson’s disease [26]

Kayser-Fleischer Rings

Liver Copper (in the absence of cholestasis)

 Present

2

 >5x ULN (>4 μmol/g)

2

 Absent

0

 0.8-4 μmol/g

1

Neurologic Symptoms^b

 Normal (<0.8 μmol/g)

-1

 Severe

2

 Rhodamine -positive granules^a

1

 Mild

1

Urinary copper (in absence of acute hepatitis)

 Absent

0

 Normal

0

Serum Ceruloplasmin

 1-2x ULN

1

 Normal (>0.2 g/L)

0

 >2x ULN

2

 0.1-0.2 g/L

1

 Normal but >5x ULN after D penicilamine

2

 <0.1 g/L

2

Mutation analysis

Coombs-negative hemolytic anemia

 On both chromosomes detected

4

 Present

1

 On 1 chromosome detected

1

 Absent

0

 No mutations detected

0

TOTAL SCORE EVALUATION

 4 or more Diagnosis established

 3 Diagnosis possible, more tests needed

 2 or less Diagnosis very unlikely