title: Menkes's syndrome.
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.
mesh_terms: D001928:Brain Diseases, Metabolic / Q000503:physiopathology; D003300:Copper / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
chemical_list: D003300:Copper