Original Articles: Hepatology
Clinical Zinc Deficiency as Early Presentation of Wilson Disease
The custom high-throughput sequencing, the results of which are presented in the report, was made possible through funding by the laboratory LABCATAL (Montrouge, France).
Drs Van Biervliet and Küry contributed equally to this article.
The authors report no conflicts of interest.
ABSTRACT
Wilson disease is a rare autosomal recessive disorder of the copper metabolism caused by homozygous or compound heterozygous mutations in the ATP-ase Cu(2+) transporting polypeptide (ATP7B) gene. The copper accumulation in different organs leads to the suspicion of Wilson disease. We describe a child with clinical zinc deficiency as presenting symptom of Wilson disease, which was confirmed by 2 mutations within the ATP7B gene and an increased copper excretion.
