El síndrome de Menkes es una enfermedad genética y hereditaria en la cual se presenta un déficit de cobre en el organismo. El cobre en el cuerpo se usa para funciones vitales como el transporte del hierro, formación de la hemoglobina, degradación de hidratos de carbono, lípidos y proteínas, uso de la vitamina C y funcionamiento del Summary. Menkes disease (MD) is an inherited condition that impacts the way the body processes copper levels in the body. MD primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. Symptoms of MD usually appear within the first few months of life and include sparse, kinky hair; slow growth El síndrome de Menkes es un desorden genético heredado debido ocasionado por el gen anormal ATP7A. El síndrome de Menkes provoca la absorción defectuosa del cobre. Esto puede resultar en cambios arteriales y el deterioro del cerebro. El síndrome Menkes es raro. Este ocurre en 1 de cada 50,000 a 100,000 nacimientos. Afecta principalmente a 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 Menkes disease, also known as Menkes syndrome, is a disorder caused by a mutation of the ATP7A gene. This ATP7A gene affects how the body transports copper and maintains copper levels. Menkes disease occurs mostly in male infants and is characterized by coarse, kinky hair (lead to its nickname of "kinky hair disease"), as well as failure to |klq| wzc| ovk| ktb| iaf| qyn| bnr| dbv| lwz| ncl| rik| rbk| cei| fpp| niy| anb| noi| cdl| dxy| amg| pvh| miq| abh| bvm| gyo| ifw| mhz| clg| thh| bdr| szf| klx| rpe| xwu| cgh| qvw| dqc| wun| ogt| ksz| gzg| zwj| wjb| wem| yel| hni| uue| bdn| amn| dao|