GTR Home > Conditions/Phenotypes > Menkes kinky-hair syndrome


Menkes disease is an X-linked recessive disorder characterized by generalized copper deficiency. The clinical features result from the dysfunction of several copper-dependent enzymes. De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Menkes disease. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DSMAX, MK, MNK, SMAX3, ATP7A
    Summary: ATPase copper transporting alpha

Clinical features


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Suggested reading

  • Link text is missing.
    Neonatal Diagnosis and Treatment of Menkes Disease

Practice guidelines

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