Skip Navigation
Print Page

Menkes Disease: Overview

Skip sharing on social media links
Share this:

Menkes disease is a genetic disorder that affects how copper moves through the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate; and deterioration of the nervous system. Children with Menkes disease typically begin to develop symptoms during infancy. If not treated, the disease can cause death in children as young as 3 years old. The NICHD scientists are examining the genetic origins of Menkes disease and studying the effectiveness of early copper injections and gene-replacement therapies for treating the disease. Research also includes work on a universal newborn screening test for newborns. 

arrow pointing left For more information about this topic, select the Condition Information, Research Information, Clinical Trials, or Resources and Publications link in the menu on the left.

Common Names

  • Kinky hair disease
  • Menkes disease
  • Menkes syndrome
  • Steely hair disease

Medical or Scientific Names

  • Congenital hypocupremia (pronounced kuhn-JEN-i-tl hahy-poh-kyoo-PREE-mee-uh)
  • Copper transport disease
  • Menkes disease
  • Menkes syndrome
  • MK
  • MNK
  • X-linked copper deficiency
Last Reviewed: 08/14/2013
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology