Menkes disease: underlying genetic defect and new diagnostic possibilities

J Inherit Metab Dis. 1998 Aug;21(5):604-12. doi: 10.1023/a:1005479307906.


Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these findings had important consequences from a clinical point of view. Today the underlying genetic defect has been described in several patients affected by one of the three hereditary disorders of copper metabolism: Menkes disease, occipital horn syndrome and wilson disease. In this review we discuss mainly Menkes disease and the impact of the recent findings on the diagnosis of this disorder.

Publication types

  • Review

MeSH terms

  • Animals
  • Female
  • Genetic Carrier Screening
  • Humans
  • Male
  • Menkes Kinky Hair Syndrome / diagnosis*
  • Menkes Kinky Hair Syndrome / genetics*