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Genetic and Rare Diseases Information Center (GARD)

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Menkes disease

Other Names for this Disease
  • Copper transport disease
  • Kinky hair disease
  • Menkea syndrome
  • Menkes syndrome
  • Steely hair disease
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What is Menkes disease?

What is the prognosis for individuals with Menkes disease?

What is Menkes disease?

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. [1]
Last updated: 3/8/2011

What is the prognosis for individuals with Menkes disease?

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.[2] The majority of children with Menkes disease die within the first decade of life, most by age 3.[2][3][4] Pneumonia, leading to respiratory failure, is a common cause of death, although some patients with Menkes disease die suddenly in the absence of any apparent acute medical process. The major morbidity associated with Menkes disease involves the neurologic, gastrointestinal, and connective tissue (including vasculature) systems.[3]

If administered within the first few months of life, copper histidinate appears to be effective in increasing the life expectancy of some patients.[4][5] However, this treatment only increases life expectancy from three to thirteen years of age, so can only be considered a palliative therapy.[5]

Last updated: 3/8/2011

  1. Menkes syndrome. Genetics Home Reference (GHR). March 2009; Accessed 3/8/2011.
  2. NINDS Menkes Disease Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2009; Accessed 3/8/2011.
  3. Kaler SG. Genetics of Menkes Kinky Hair Disease. eMedicine. 2009; Accessed 3/8/2011.
  4. Kaler SG. ATP7A-Related Copper Transport Disorders. GeneReviews. 2010; Accessed 3/8/2011.
  5. Menkes syndrome. National Center for Biotechnology Information (NCBI). Accessed 3/8/2011.