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Menkes Kinky Hair SyndromeLegal notice  


Other terms
Hypocupremia, Congenital,Congenital Hypocupremias,Hypocupremias, Congenital,Kinky Hair Disease,Diseases, Kinky Hair,Hair Diseases, Kinky,Kinky Hair Diseases,Kinky Hair Syndrome,Menkes Syndrome,Menkes' Disease,Diseases, Menkes',Menkes' Diseases,Steely Hair Disease,Disease, Steely Hair,Diseases, Steely Hair,Hair Diseases, Steely,Steely Hair Diseases,Steely Hair Syndrome,Steely Hair Syndromes,Syndrome, Steely Hair,Syndromes, Steely Hair,Congenital Hypocupremia,Menkes Disease

Description
Menkes Kinky Hair Syndrome: An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)



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Legal notice
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