Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

• Autor(es): Natera-de Benito, Daniel ; Sola, Abel ; Sousa, Paulo Rego ; Boronat, Susana ; Expósito-Escudero, Jessica ; Carrera-García, Laura ; Ortez, Carlos ; Jou, Cristina ; Muchart, Jordi ; Rebollo, Monica ; Armstrong, Judith ; Colomer, Jaume ; Garcia-Cazorla, Àngels ; Hoenicka, Janet ; Palau, Francesc ; Nascimento, Andres
• Data: 2021
• Identificador Persistente: http://hdl.handle.net/10400.26/36508
• Origem: Serviço de Saúde da Região Autónoma da Madeira, E.P.E.
• Assunto(s): ATP7A; ATP7B; copper replacement therapy; distal hereditary motor neuropathy; occipital horn syndrome; Portugal; Região Autónoma da Madeira
• Tipo de Documento: Artigo científico
• Idioma: Inglês
• Contribuidor(es): Repositório Comum

Descrição

The ATP7A gene encodes a copper transporter whose mutations cause Menkes disease, occipital horn syndrome (OHS), and, less frequently, ATP7A-related distal hereditary motor neuropathy (dHMN). Here we describe a family with OHS caused by a novel mutation in the ATP7A gene, including a patient with a comorbid dHMN that worsened markedly after being treated with copper histidinate.