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Article

Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.

Journal of trace elements in medicine and biology : organ of the Society for Minerals and Trace Elements (GMS) - 1 Oct 2014

Kaler Stephen G

Abstract excerpt

Menkes disease is an X-linked recessive disorder of brain copper metabolism caused by mutations in an essential mammalian copper transport gene, ATP7A. Untreated affected individuals suffer failure to thrive and neurodevelopmental delays that usually commence at 6-8 weeks of age. Death by age three years is typical. While provision of working copies of ATP7A to the brain by viral vectors is a promising strategy...

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Identifiers

PMID: 25281031
DOI: 10.1016/j.jtemb.2014.08.008
PMCID: PMC4253077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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