Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Menkes disease


Other Names for this Disease

  • Copper transport disease
  • Kinky hair disease
  • Menkea syndrome
  • Menkes syndrome
  • Steely hair disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and deterioration of the nervous system. Additional signs and symptoms may be noted. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Menkes disease is caused by mutations in the ATP7A gene. It is inherited in an X-linked recessive pattern. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood. [1]
Last updated: 3/8/2011

References

  1. Menkes syndrome. Genetics Home Reference (GHR). March 2009; http://ghr.nlm.nih.gov/condition/menkes-syndrome. Accessed 3/8/2011.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

Please contact us with your questions about Menkes disease. We will answer your question and update these pages with new resources and information.

Basic Information

In Depth Information

  • Medscape Reference has three articles on this topic from the perspective of Pediatrics: Genetics and Metabolic Disease, Neurology and Dermatology. You may need to register to view the information online, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Menkes disease. Click on the link to view a sample search on this topic.

Insurance Issues

Other Names for this Disease
  • Copper transport disease
  • Kinky hair disease
  • Menkea syndrome
  • Menkes syndrome
  • Steely hair disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.