| 释义 |
kinky-hair disease kink·y-hair dis·ease , kinky hair disease [MIM*309400] an inborn error of copper metabolism, onset within a few weeks of birth; manifested by short, sparse, poorly pigmented kinky hair; failure to thrive; development of seizures; spasticity; and progressive mental deterioration leading to death. X-linked recessive inheritance due to a defect of copper transport, caused by mutation in the Menkes gene (MNK), which encodes a copper-transporting ATPase on Xq. Synonym(s): Menkes syndrome, trichopoliodystrophykink·y-hair dis·ease (kingk'ē-hār' di-zēz') An inborn error of copper metabolism with onset within a few weeks of birth; manifested by short, sparse, poorly pigmented kinky hair; failure to thrive; development of seizures; spasticity; and progressive mental deterioration leading to death. X-linked recessive inheritance due to a defect of copper transport, caused by mutation in the Menkes gene (MNK), which encodes a copper-transporting ATPase on Xq.
Synonym(s): Menkes syndrome. |