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. 2023 Jun 22;10(9):1306–1316. doi: 10.1002/mdc3.13813

TABLE 1.

Characteristics of the three Wilson's disease patients with copper deficiency at Wilson's disease diagnosis

Patients 1 2 3
Gender Male Male Male
At Wilson's disease diagnosis
Age (years) 34 58 23
Mutation 1 His1069Gln‐exon14 Phe714Leu‐exon8 Thr977Met‐ex13
Mutation 2 Pro1098Arg‐exon15 deletion‐exon 4 Ile1148Thr‐ex16
Clinical form of WD Hepatic + KFR Hepatic and neurologic Presymptomatic
UWDRS 0 3 (writer cramp) 0
Hepatic score (0–6) 5 (compensated cirrhosis, platelets 70,000/mm4) 3 (mild cirrhosis, no cytopenia) 0
Ophthalmologic score (0–2) 2 0 0
Brain MRI Normal Normal Normal
Treatments zinc acetate (150 mg/day) D‐Penicillamine 900 mg/d during 6 years then zinc acetate 150 mg/d D‐Penicillamine 900 mg/d during thirteen years, then Trientine 2HCL 600 mg/d + zinc sulfate 1200 mg/d