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

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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The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.
 

Author(s): Hille Fieten, Yadvinder Gill, Alan J Martin, Mafalda Concilli, Karen Dirksen, Frank G van Steenbeek, Bart Spee, Ted S G A M van den Ingh, Ellen C C P Martens, Paola Festa, Giancarlo Chesi, Bart van de Sluis, Roderick H J H Houwen, Adrian L Watson, Yurii S Aulchenko, Victoria L Hodgkinson, Sha Zhu, Michael J Petris, Roman S Polishchuk, Peter A J Leegwater, Jan Rothuizen

Journal: Dis Model Mech. 2016 Jan;9(1):25-38.

 

The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations ...

Last Updated: 9 Jan 2016

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Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.
 

Author(s): Larissa Sampaio de Athayde Costa, Stephanie Pucci Pegler, Rute Facchini Lellis, Vera Lúcia Jornada Krebs, Stephen Robertson, Tim Morgan, Rachel Sayuri Honjo, Débora Romeo Bertola, Chong Ae Kim

Journal: Rev Assoc Med Bras (1992). ;61(5):407-10.

 

Menkes disease is a congenital disorder caused by changes in copper metabolism derived from mutations in the ATP7A gene. It is characterized by physical and neurological alterations. In the neonatal period, these alterations can be nonspecific, which makes early diagnosis a challenge. ...

Last Updated: 25 Nov 2015

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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: 31 Aug 2016

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