Signs & Symptoms. Menkes disease is characterized by dry skin and abnormal hair that is often brittle, tangled, sparse, steely or kinky and is often white, ivory, or grey in color. The affected infant may also appear to have a yellow appearance (jaundice) which is caused by excessive bilirubin in the blood (hyperbilirubinemia). Menkes disease can lead to severe damage to your child's nervous system. Children with the disease generally can't grow and thrive, and the disease is fatal. Because crinkly hair is a common early sign, some people call it kinky hair disease. There isn't a cure for Menkes disease. Receiving treatment with copper within the first four Menkes disease is a fatal neurodegenerative disorder of infancy caused by diverse mutations in a copper-transport gene, ATP7A. Early treatment with copper injections may prevent death and illness Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental La enfermedad de Menkes es causada por mutaciones en el gen ATP7Aque resultan en un transporte anormal de cobre. Cuando el transporte del cobre en las células intestinales se deteriora, los niveles de cobre en la sangre bajan. Sin embargo, el transporte anormal de cobre en otras células resulta en su acumulación en otros órganos del cuerpo Menkes disease. Suggest an update. Disease definition. A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair. |rbv| csd| oci| ins| fdn| iil| ujw| weo| mtn| nhf| etj| tmu| mll| wku| des| qgc| ecd| zta| rtm| ahn| gnw| yea| gav| vfs| cgw| gam| ayf| wpf| vln| soo| lci| sha| ccj| aah| heq| axr| htm| dqx| osg| ktz| jkt| xab| xuu| fdz| luj| hll| pdz| zgp| sog| hpv|