fig5

Figure 5. Diagnostic algorithms for Wilson disease. The algorithms for patients with (A) unexplained liver conditions and (B) neurological symptoms are depicted. The numbers in parentheses correspond to the Leipzig score, where a total score of 4 or higher indicates a strong likelihood of Wilson disease. The minimum ULN for basal 24-h urinary Cu excretion is set at 40 μg/24 h. Genetic testing involves examining the ATP7B gene sequence to identify any disease-associated mutations present on each allele. The manifestation of Wilson disease as a neurological disorder without the presence of Kayser-Fleischer rings is uncommon, yet it poses significant diagnostic challenges. These schemes were adapted from^[4]. ULN: Upper limit of normal; Cu: copper; CPN: ceruloplasmin.