释义 |
Menkes syndrome 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, trichopoliodystrophyATP7A A gene on chromosome Xq21.1 that encodes a transmembrane protein that functions in copper transport across membranes, localising to the trans-Golgi network. Molecular pathology ATP7A mutations cause Menkes disease, occipital horn syndrome and X-linked cutis laxa.Menkes syndrome Menkes kinky hair syndrome Metabolic disease An X-R condition linked to ↓ serum copper Clinical Progressive mental deterioration, kinked or twisted brittle hair, skeletal defects, death in infancykink·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. Menkes, John H., U.S. pediatric neurologist, 1928–. Menkes disease - Synonym(s): kinky-hair syndromeMenkes syndrome - Synonym(s): kinky-hair syndrome |