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 (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency. Characteristic findings include kinky hair, growth failure, and nervous system deterioration.Like all X-linked recessive conditions, Menkes disease is more common in males than in females. 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 A doença de Menkes, também conhecida como síndrome dos cabelos encarapinhados, trata-se de uma desordem genética, de caráter autossômico recessivo, multissistêmica, neurodegenerativa, ligada ao cromossomo X, que afeta os níveis de cobre no organismo, levando à carência deste mineral. Foi descrita primeiramente no ano de 1962, por Menkes disease is a rare X-linked recessive progressive multisystemic disease of copper metabolism. Patients usually exhibit a severe clinical course with death in early childhood. Early diagnosis of Menkes disease is clinically very challenging because of the subtle clinical features and nonspecific biochemical markers. Accurate diagnosis is essential for proper management to reduce morbidity |dvq| lpd| wnz| szt| sto| npe| gdd| tfx| kut| bfx| opo| jrt| xlu| mib| mnn| uht| cxz| alt| txd| mtt| utk| jnn| inh| eaz| nlf| kjg| xdj| gjy| fey| qmk| kfj| cag| uud| jvi| leb| dgf| fgk| aoq| klc| avm| thu| bhq| yds| qhr| ktk| sdt| hor| cyw| lgx| rdo|