http://www.ncbi.nlm.nih.gov/pubmed/25825851
Van Biervliet S, Küry S, De Bruyne R, Vanakker OM, Schmitt S, VandeVelde S,Blouin E, Bézieau S. Clinical zinc deficiency as early presentation of Wilsondisease. J PediatrGastroenterolNutr. 2015;60(4):457-9.
Abstract
Wilson disease is a rare autosomal recessive disorder of the copper metabolism caused by homozygous or compound heterozygous mutations in the ATP-aseCu(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.
Published on:
Apr-2015