Menkes disease

Common Name(s)

Menkes disease, Menkes kinky-hair syndrome

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Menkes disease" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Menkes disease" for support, advocacy or research.

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Menkes disease" returned 76 free, full-text research articles on human participants. First 3 results:

The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.
 

Author(s): Gregorio León-García, Alfredo Santana, Nicolás Villegas-Sepúlveda, Concepción Pérez-González, José M Henrríquez-Esquíroz, Carlota de León-García, Carlos Wong, Isabel Baeza

Journal:

 

The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease. Here we describe the novel and unusual mutation (p.T1048I) in the ...

Last Updated: 6 Nov 2012

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Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.
 

Author(s): Suvimol C Hill, Andrew J Dwyer, Stephen G Kaler

Journal: Pediatr Radiol. 2012 Nov;42(11):1301-4.

 

Menkes disease is an X-linked recessive disorder of copper transport caused by mutations in ATP7A, a copper-transporting ATPase. Certain radiologic findings reported in this condition overlap with those caused by child abuse. However, cervical spine defects simulating cervical spine ...

Last Updated: 26 Oct 2012

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Neonatal erythroderma as a first manifestation of Menkes disease.
 

Author(s): Javier Galve, Asunción Vicente, María Antonia González-Enseñat, Belén Pérez-Dueñas, Victoria Cusí, Lisbeth Birk Møller, Marc Julià, Anna Domínguez, Juan Ferrando

Journal: Pediatrics. 2012 Jul;130(1):e239-42.

 

Menkes disease is an X-linked recessive lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations. The low serum copper and ceruloplasmin suggests the diagnosis, which is confirmed ...

Last Updated: 3 Jul 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Menkes disease" returned 8 free, full-text review articles on human participants. First 3 results:

Menkes disease with gastroesophageal reflux disease and successful surgical treatment: a case report and literature review.
 

Author(s): Tadao Okada, Fumiaki Sasaki, Shohei Honda, Hisayuki Miyagi, Mitsuru Kubota, Satoru Todo

Journal: Turk. J. Pediatr.. ;52(3):333-5.

 

The complication of Menkes disease (MD) and gastroesophageal reflux disease (GERD) is extremely rare. This report describes the very rare case of a one-year-old boy with MD complicated with GERD, and the successful surgical treatment of GERD. We review the literature on this relationship ...

Last Updated: 19 Aug 2010

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Menkes disease.
 

Author(s): Zeynep Tümer, Lisbeth B Møller

Journal: Eur. J. Hum. Genet.. 2010 May;18(5):511-8.

 

Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast ...

Last Updated: 22 Apr 2010

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Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
 

Author(s): P de Bie, P Muller, C Wijmenga, L W J Klomp

Journal: J. Med. Genet.. 2007 Nov;44(11):673-88.

 

The trace metal copper is essential for a variety of biological processes, but extremely toxic when present in excessive amounts. Therefore, concentrations of this metal in the body are kept under tight control. Central regulators of cellular copper metabolism are the copper-transporting ...

Last Updated: 2 Nov 2007

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
 

Status: Recruiting

Condition Summary: Menkes Disease; Occipital Horn Syndrome; Unexplained Copper Deficiency

 

Last Updated: 22 Jul 2014

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