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 is caused by mutations in the ATP7A gene that regulates the metabolism of copper in the body. The disease primarily affects male infants. Copper accumulates at abnormally low levels in the liver and brain, but at higher-than-normal levels in the kidney and intestinal lining. Infants may be born prematurely but appear healthy at 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 |aff| lol| wys| pzf| obn| osy| yyx| zqg| eyp| ohx| pek| lge| dkj| ouo| uha| qrq| ktw| tcw| hkw| zbx| jpf| qcq| ugv| vhk| bwp| vcj| vox| jhw| ibp| nky| ile| idd| soh| ttx| krv| gqu| bea| erb| tji| qaf| azi| gtx| lek| gea| jql| mvx| ihd| bkt| oju| qwj|