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Other Names for this Disease
- Copper transport disease
- Kinky hair disease
- Menkea syndrome
- Menkes syndrome
- Steely hair disease
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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. 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
Last updated: 3/8/2011
- Menkes syndrome. Genetics Home Reference (GHR). March 2009; http://ghr.nlm.nih.gov/condition/menkes-syndrome. Accessed 3/8/2011.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
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- Children Living with Inherited Metabolic Diseases (CLIMB) has a Web page with information about Menkes disease and other metabolic disorders. Click on the link above to view the information page.
- Genetics Home Reference (GHR) contains information on Menkes disease. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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 an 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.
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.