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Book

Menkes Disease

Praveen Kumar Ramani  1 , Bindu Parayil Sankaran  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
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Book

Menkes Disease

Praveen Kumar Ramani et al.
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Excerpt

Menkes disease is a rare X-linked recessive progressive multisystemic disease of copper metabolism. Patients usually exhibit a severe clinical course with death in early childhood. Early diagnosis of Menkes disease is clinically very challenging because of the subtle clinical features and nonspecific biochemical markers. Accurate diagnosis is essential for proper management to reduce morbidity and mortality and also for parental counseling and prenatal diagnosis.

Menkes et al first described the disease in 1962. In 1972, Danks et al first observed that copper metabolism was abnormal. In 1973, they noted the similarity between kinky, wiry, or steely hair and the brittle wool of sheep found in copper-deficient areas of Australia. Later, they reported abnormal copper and ceruloplasmin levels in these patients.

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Conflict of interest statement

Disclosure: Praveen Kumar Ramani declares no relevant financial relationships with ineligible companies.

Disclosure: Bindu Parayil Sankaran declares no relevant financial relationships with ineligible companies.

References

    1. Ojha R, Prasad AN. Menkes disease: what a multidisciplinary approach can do. J Multidiscip Healthc. 2016;9:371-85. - PMC - PubMed
    1. Menkes JH. Kinky hair disease: twenty five years later. Brain Dev. 1988;10(2):77-9. - PubMed
    1. Danks DM, Cartwright E, Stevens BJ, Townley RR. Menkes' kinky hair disease: further definition of the defect in copper transport. Science. 1973 Mar 16;179(4078):1140-2. - PubMed
    1. Danks DM, Campbell PE, Walker-Smith J, Stevens BJ, Gillespie JM, Blomfield J, Turner B. Menkes' kinky-hair syndrome. Lancet. 1972 May 20;1(7760):1100-2. - PubMed
    1. Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet. 1993 Jan;3(1):7-13. - PubMed

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