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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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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 83 free, full-text research articles on human participants. First 3 results:

Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report.
 

Author(s): Shu-Chao Weng, Chyong-Hsin Hsu, Nien-Lu Wang, Shuan-Pei Lin, Chuen-Bin Jiang

Journal: Medicine (Baltimore). 2016 Sep;95(37):e4842.

 

Menkes disease (MD) is a disorder of copper metabolism due to ATP7A gene mutation that leads to severe copper deficiency. Deformed blood vessels can be found in many parts of the body, and intracranial hematoma is generally reported.

Last Updated: 16 Sep 2016

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The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria.
 

Author(s): Ashima Bhattacharjee, Haojun Yang, Megan Duffy, Emily Robinson, Arianrhod Conrad-Antoville, Ya-Wen Lu, Tony Capps, Lelita Braiterman, Michael Wolfgang, Michael P Murphy, Ling Yi, Stephen G Kaler, Svetlana Lutsenko, Martina Ralle

Journal: J. Biol. Chem.. 2016 Aug;291(32):16644-58.

 

Copper-transporting ATPase ATP7A is essential for mammalian copper homeostasis. Loss of ATP7A activity is associated with fatal Menkes disease and various other pathologies. In cells, ATP7A inactivation disrupts copper transport from the cytosol into the secretory pathway. Using fibroblasts ...

Last Updated: 6 Aug 2016

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Menkes Kinky Hair Disease.
 

Author(s): Anoop Verma, Kavita Menghani

Journal: Indian Pediatr. 2016 Jan;53(1):86.

 

Last Updated: 4 Feb 2016

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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 9 free, full-text review articles on human participants. First 3 results:

Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.
 

Author(s): Stephanie Zlatic, Heather Skye Comstra, Avanti Gokhale, Michael J Petris, Victor Faundez

Journal: Neurobiol. Dis.. 2015 Sep;81():154-61.

 

ATP7A mutations impair copper metabolism resulting in three distinct genetic disorders in humans. These diseases are characterized by neurological phenotypes ranging from intellectual disability to neurodegeneration. Severe ATP7A loss-of-function alleles trigger Menkes disease, a ...

Last Updated: 6 Nov 2015

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Menkes disease in affected females: the clinical disease spectrum.
 

Author(s): Patroula Smpokou, Monisha Samanta, Gerard T Berry, Leah Hecht, Elizabeth C Engle, Uta Lichter-Konecki

Journal: Am. J. Med. Genet. A. 2015 Feb;167A(2):417-20.

 

Menkes disease (MD; OMIM 309400) is an X-linked, neurodegenerative disorder resulting from deficient activity of copper-dependent enzymes and caused by alterations in the APT7A gene. In its classic form, it manifests in boys with hypotonia, seizures, skin and joint laxity, hair twisting ...

Last Updated: 21 Jan 2015

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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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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

 

Last Updated: 12 May 2017

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