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.

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

Last Updated: 22 Apr 2015

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

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

Go To URL
Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.
 

Author(s): Dongkyu Kim, Jieun Choi, Kyu-Min Han, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo, Yong-Mahn Han

Journal:

 

Bone abnormalities, one of the primary manifestations of Menkes disease (MD), include a weakened bone matrix and low mineral density. However, the molecular and cellular mechanisms underlying these bone defects are poorly understood.

Last Updated: 8 Sep 2015

Go To URL
Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model.
 

Author(s): Marie Reine Haddad, Keyur D Patel, Patricia H Sullivan, David S Goldstein, Kevin M Murphy, Jose A Centeno, Stephen G Kaler

Journal: Mol. Genet. Metab.. 2014 Dec;113(4):294-300.

 

Mottled-dappled (Mo-dp) is a mouse model of Menkes disease caused by a large, previously uncharacterized deletion in the 5' region of Atp7a, the mouse ortholog of ATP7A. Affected mutants die in utero at embryonic day 17, and show bending and thickening of the ribs and distortion of ...

Last Updated: 8 Dec 2014

Go To URL

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:

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

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

 
 
Top

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

Go to URL