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NINDS Menkes Disease Information Page


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What is Menkes Disease?

Menkes disease is caused by a defective gene named ATPTA1 that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher than normal levels in the kidney and intestinal lining. Affected infants may be born prematurely, but appear healthy at birth and develop normally for 6 to 8 weeks. Then symptoms begin, including floppy muscle tone, seizures, and failure to thrive.  Menkes disease is also characterized by subnormal body temperature and strikingly peculiar hair, which is kinky, colorless or steel-colored, and breaks easily. There is often extensive neurodegeneration in the gray matter of the brain. Arteries in the brain may be twisted with frayed and split inner walls. This can lead to rupture or blockage of the arteries. Weakened bones (osteoporosis) may result in fractures.

Is there any treatment?

Treatment with daily copper injections may improve the outcome in Menkes disease if it begins within days after birth.  Other treatment is symptomatic and supportive.

What is the prognosis?

Since newborn screening for this disorder is not available, and early detection is infrequent because the clinical signs of Menkes disease are subtle in the beginning, the disease is rarely treated early enough to make a significant difference.  The prognosis for babies with Menkes disease is poor. Most children with Menkes disease die within the first decade of life.

What research is being done?

Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications.  The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence of Menkes disease before symptoms appear.  Study results showed higher survival rates for children given the earliest copper injection treatment and improved, if not normal, 2.  Additional research is being performed by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, in collaboration with the NINDS, that applies gene therapy approaches to Menkes disease.3

 

1.  Kaler, SG. The neurology of STPAT copper transporter disease: emerging concepts and future trends. Nature Reviews Neurology, 2001:7:15-19.. 

2.  Kaler SG, et al.  Neonatal Diagnosis and Treatment of Menkes Disease.  N Engl J Med  2008;358:605-14.

3.  Donsante, A. et. al. ATPTA gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Molecular Therapy (in press as of August 2011).

NIH Patient Recruitment for Menkes Disease Clinical Trials

Organizations

Column1 Column2
National Organization for Rare Disorders (NORD)
55 Kenosia Avenue
Danbury, CT   06810
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291

 


Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892



NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient's medical history.

All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.

Last updated September 30, 2011