Clinical zinc deficiency as early presentation of Wilson disease

J Pediatr Gastroenterol Nutr. 2015 Apr;60(4):457-9. doi: 10.1097/MPG.0000000000000628.

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.

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Biological Transport
  • Cation Transport Proteins / genetics*
  • Child, Preschool
  • Copper / metabolism*
  • Copper-Transporting ATPases
  • Deficiency Diseases / etiology
  • Deficiency Diseases / genetics*
  • Deficiency Diseases / metabolism
  • Hepatolenticular Degeneration / complications
  • Hepatolenticular Degeneration / pathology*
  • Homozygote
  • Humans
  • Liver / metabolism
  • Male
  • Mutation*
  • Zinc / deficiency*
  • Zinc / metabolism

Substances

  • Cation Transport Proteins
  • Copper
  • Adenosine Triphosphatases
  • ATP7B protein, human
  • Copper-Transporting ATPases
  • Zinc