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kinky-hair disease

 

Definition: 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, trichopoliodystrophy

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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