Table 1.

Diagnostic scoring system for Wilson’s disease.

Clinical and Laboratory Presentation	Points
Kayser–Fleischer rings
Present	2
Absent	0
Neurologic symptoms or typical abnormalities of brain MRI
Severe	2
Mild	1
Absent	0
Serum ceruloplasmin (g/L)
Normal (>0.2)	0
0.1–0.2	1
<0.1	2
Coombs-negative hemolytic anemia
Present	1
Absent	0
Liver copper (in the absence of cholestasis)
>5 × ULN (>4 µmol/g)	2
0.8–4 µmol/g	1
Normal (<0.8 µmol/g)	−1
Rhodanine-positive granules *	1
24 h urinary copper (in the absence of acute hepatitis)
Normal	0
1–2 × ULN	1
>2 × ULN	2
Normal but >5 × ULN after D-penicillamine	2
Mutation analysis
Mutations detected on both chromosomes	4
Mutations detected on one chromosome	1
Mutations absent	0
TOTAL SCORE:
Diagnosis established	4 or more
Diagnosis possible, more tests needed	3
Diagnosis very unlikely	2 or less