Clinical zinc deficiency as early presentation of Wilson disease.
J Pediatr Gastroenterol Nutr
; 60(4): 457-9, 2015 Apr.
Article
em En
| MEDLINE
| ID: mdl-25825851
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.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Zinco
/
Adenosina Trifosfatases
/
Cobre
/
Proteínas de Transporte de Cátions
/
Deficiências Nutricionais
/
Degeneração Hepatolenticular
/
Mutação
Tipo de estudo:
Etiology_studies
Limite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Gastroenterol Nutr
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
França