Menkes disease

Menkes kinky-hair syndrome


Type of disease: Rare conditions

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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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