Menkes Kinky Hair Syndrome
Synonyms
Congenital Hypocupremia
Congenital Hypocupremias
Copper Transport Disease
Disease, Steely Hair
Diseases, Kinky Hair
Diseases, Menkes'
Diseases, Steely Hair
Hair Diseases, Kinky
Hair Diseases, Steely
Hypocupremia, Congenital
Hypocupremias, Congenital
Kinky Hair Disease
Kinky Hair Diseases
Kinky Hair Syndrome
Menkea Syndrome
Menkea Syndromes
Menkes Disease
Menkes Syndrome
Menkes' Disease
Menkes' Diseases
Steely Hair Disease
Steely Hair Diseases
Steely Hair Syndrome
Steely Hair Syndromes
Syndrome, Menkea
Syndrome, Steely Hair
Syndromes, Menkea
Syndromes, Steely Hair
X-Linked Copper Deficiency
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)