Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

http://hdl.handle.net/10400.26/36508

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Authors

Natera-de Benito, Daniel

Sousa, Paulo Rego

Boronat, Susana

Expósito-Escudero, Jessica

Carrera-García, Laura

Rebollo, Monica

Abstract(s)

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.

Keywords

ATP7A ATP7B copper replacement therapy distal hereditary motor neuropathy occipital horn syndrome Portugal Região Autónoma da Madeira

URI

http://hdl.handle.net/10400.26/36508

Citation

Pediatric Neurology 119 (2021) 40e44

Publisher

Elsevier Inc.

DOI

10.1016/j.pediatrneurol.2021.03.005

Collections

SESARAM - Pedi - Artigos

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