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Menkes Disease: Overview

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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. 

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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