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Menkes Disease

Abstract

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NORD is very grateful to John H. Menkes, MD, Professor Emeritus of Neurology and Pediatrics, UCLA School of Medicine, and Director Emeritus of Pediatric Neurology, Cedars-Sinai Medical Center, for assistance in the preparation of this report.

Synonyms of Menkes Disease

  • Copper Transport Disease
  • Kinky Hair Disease
  • Steely Hair Disease
  • Trichopoliodystrophy
  • X-linked Copper Deficiency

Disorder Subdivisions

  • Neurodegenerative disease
  • X-linked Copper Malabsorption

General Discussion

Menkes disease is a genetic disorder of copper metabolism that is detectable before birth (prenatally) and which follows a progressively degenerative path involving several organs of the body but especially the brain. It is characterized by seizures, mental retardation, stunted growth, failure to thrive, unstable body temperature, and very unusual color and texture of hair.

It is the failure of the copper transport systems within the cell and then across the cell membrane that is responsible for the symptoms of the disorder. Because of the failure of this transport system, copper is unavailable to various cells where it is essential for the structure and function of various enzymes that control the development of hair, brain, bones, liver and arteries.

Menkes disease is an X-linked genetic disorder caused by mutations in the ATP7A gene that is responsible for production of the ATPase enzyme that regulates copper levels in the body. Variants of Menkes that are caused by mutations in the ATP7A gene but result in less severe symptoms include mild Menkes disease and occipital horn syndrome.

Organizations related to Menkes Disease

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