Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

• Author(s): 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
• Date: 2021
• Persistent ID: http://hdl.handle.net/10400.26/36508
• Origin: Serviço de Saúde da Região Autónoma da Madeira, E.P.E.
• Subject(s): ATP7A; ATP7B; copper replacement therapy; distal hereditary motor neuropathy; occipital horn syndrome; Portugal; Região Autónoma da Madeira
• Document Type: Journal article
• Language: English
• Contributor(s): Repositório Comum

Description

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.