title: Clinical zinc deficiency as early presentation of Wilson disease.
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.
authors.affiliation: *Pediatric Gastroenterology and Hepatology Department †Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium ‡CHU Nantes, Service de Génétique Médicale, Nantes, Cedex 1 §Laboratoire LABCATAL, Montrouge, France.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Van Biervliet
authors.forename: Sébastien
authors.initials: S
authors.lastname: Küry
authors.forename: Ruth
authors.initials: R
authors.lastname: De Bruyne
authors.forename: Olivier M
authors.initials: OM
authors.lastname: Vanakker
authors.forename: Sébastien
authors.initials: S
authors.lastname: Schmitt
authors.forename: Saskia
authors.initials: S
authors.lastname: Vande Velde
authors.forename: Eric
authors.initials: E
authors.lastname: Blouin
authors.forename: Stéphane
authors.initials: S
authors.lastname: Bézieau
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D001692:Biological Transport; D027682:Cation Transport Proteins / Q000235:genetics*; D002675:Child, Preschool; D003300:Copper / Q000378:metabolism*; D000073840:Copper-Transporting ATPases; D003677:Deficiency Diseases / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000150:complications / Q000473:pathology*; D006720:Homozygote; D006801:Humans; D008099:Liver / Q000378:metabolism; D008297:Male; D009154:Mutation; D015032:Zinc / Q000172:deficiency* / Q000378:metabolism
chemical_list: D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases; D015032:Zinc