Kinky Hair Syndrome

《英文msh詞典》Kinky Hair Syndrome
[同義詞] Kinky Hair Syndrome
[主題詞] Menkes Kinky Hair Syndrome
[中文釋義] 發紐結綜合征
[英文釋義] 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)