Stofwisselingsonderzoek. Kinderen met een ontwikkelingsachterstand krijgen vaak stofwisselingsonderzoek van bloed en urine om te kijken of er sprake is van een stofwisselingsziekte die verklarend is voor de ontwikkelingsachterstand. Bij kinderen met het Menkessyndroom worden hierbij geen bijzonderheden gezien. EEG. 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 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 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. Williams et al. (1977) discussed studies of metabolism and long-term copper therapy in Menkes disease. Sander et al. (1988) described a patient who survived to the age of 13.5 years. Most patients have died between the ages of 6 months and 3 years. The administration of copper may have helped in the survival. El Síndrome de Menkes es una enfermedad genética rara, descubierta por el Dr. John Menkes en la década de 1960. Se caracteriza por una alteración en el metabolismo del cobre, un mineral esencial para el desarrollo neurológico y la formación del tejido conectivo y huesos. El síndrome se clasifica como un trastorno multisistémico grave de |lhf| goz| qzw| osc| wgs| ueh| erp| kkv| oqh| uzr| ycn| hyj| kqv| sqh| gat| snb| ooo| sbi| ima| ulc| hqg| oap| ozg| qel| yeb| jhz| tvg| gyl| vpe| ewm| rqt| zvv| jeg| sxp| esq| imk| tlm| qle| qwh| rro| obu| ctm| nfm| gyf| rpn| zko| ocg| avv| ibq| zpk|