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Menkes's Syndrome
Author(s) -
Maddox John L.,
Odom Richard B.,
Goette Detlef K.
Publication year - 1984
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1984.tb01135.x
Subject(s) - menkes disease , medicine , genodermatosis , copper deficiency , copper metabolism , pathology , endocrinology , copper , biology , biochemistry , chemistry , organic chemistry , gene
Menkes's syndrome (trichopoliodystrophy) is an x‐linked, recessive genodcrmatosis 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 metullothionein, 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.