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

Spontaneous retroperitoneal hemorrhage in Menkes disease: A rare case report.
 

Author(s): Chia-Huei Peng, Chyong-Hsin Hsu, Nien-Lu Wang, Hung-Chang Lee, Shuan-Pei Lin, Wai-Tao Chan, Chun-Yan Yeung, Chuen-Bin Jiang

Journal: Medicine (Baltimore). 2018 Feb;97(6):e9869.

 

Menkes disease (MD), also known as Menkes kinky hair disease, is a fatal neurodegenerative disease caused by a defect in copper metabolism. The symptoms involve multiple organ systems, such as the brain, lung, gastrointestinal tract, urinary tract, connective tissue, and skin. There ...

Last Updated: 31 Dec 1969

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Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
 

Author(s): Tina Skjørringe, Per Amstrup Pedersen, Sidsel Salling Thorborg, Poul Nissen, Pontus Gourdon, Lisbeth Birk Møller

Journal:

 

Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase which exhibits copper-dependent trafficking. ATP7A is found in the Trans-Golgi Network (TGN) at low copper concentrations, and in the post-Golgi compartments and the plasma membrane at ...

Last Updated: 31 Dec 1969

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Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.
 

Author(s): L Králík, E Flachsová, H Hansíková, V Saudek, J Zeman, P Martásek

Journal: Folia Biol. (Praha). 2017 ;63(5-6):165-173.

 

Menkes disease is a severe X-linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase. Deficient activity of the ATP7A protein results in decreased intestinal absorption of copper, low copper level in serum and defective distribution ...

Last Updated: 31 Dec 1969

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

Neuroimaging Changes in Menkes Disease, Part 1.
 

Author(s): R Manara, L D'Agata, M C Rocco, R Cusmai, E Freri, L Pinelli, F Darra, E Procopio, R Mardari, C Zanus, G Di Rosa, C Soddu, M Severino, M Ermani, D Longo, S Sartori,

Journal: AJNR Am J Neuroradiol. 2017 Oct;38(10):1850-1857.

 

Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define ...

Last Updated: 31 Dec 1969

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Neuroimaging Changes in Menkes Disease, Part 2.
 

Author(s): R Manara, M C Rocco, L D'agata, R Cusmai, E Freri, L Giordano, F Darra, E Procopio, I Toldo, C Peruzzi, R Vittorini, A Spalice, C Fusco, M Nosadini, D Longo, S Sartori,

Journal: AJNR Am J Neuroradiol. 2017 Oct;38(10):1858-1865.

 

This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.