Menkes's syndrome

Pediatr Dermatol. 1984 Apr;1(4):307-11. doi: 10.1111/j.1525-1470.1984.tb01135.x.

Abstract

Menkes's syndrome (trichopoliodystrophy) is an x-linked, recessive genodermatosis characterized by hair defects, severe retardation, convulsions, progressive neurologic deterioration, and early death. Recent studies in copper metabolism suggest that Menkes's syndrome may be a storage disease in which copper is irreversibly trapped in some tissues by metallothionein, a heavy-metal-binding protein. This then gives rise to a deficiency elsewhere, particularly in the brain, causing irreversible damage in the fetus. We present a patient with Menkes's syndrome and review the clinical and metabolic aspects of this disease.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases, Metabolic* / physiopathology
  • Copper / metabolism
  • Humans
  • Infant
  • Male
  • Menkes Kinky Hair Syndrome* / genetics
  • Menkes Kinky Hair Syndrome* / metabolism
  • Menkes Kinky Hair Syndrome* / physiopathology

Substances

  • Copper