Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

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.

Palavras-chave

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

Citação

Pediatric Neurology 119 (2021) 40e44

Editora

Elsevier Inc.

DOI

10.1016/j.pediatrneurol.2021.03.005

Coleções

SESARAM - Pedi - Artigos

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