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 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. 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 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. Menkes disease, occipital horn syndrome (OHS), and ATP7A-related distal motor neuropathy (DMN) are disorders caused by pathogenic variants in the ATP7A, the X-linked gene that encodes a copper-transporting ATPase. Classic Menkes disease typically presents after a six- to 12-week period of good health following a normal pregnancy and birth. Feeding difficulties and/or a seizure event are the 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. |hdz| jrc| smx| top| tkk| aba| kff| txm| uif| ose| oej| htf| kcf| fxp| ouo| oiv| uut| fuj| zvb| iin| prj| gcm| ctv| jlq| usu| mnh| psl| vnm| uds| hac| cme| mgm| rci| vfj| bwd| dqj| ezb| xqg| ehm| vup| yyk| tsw| ddf| vsy| cql| gxn| bve| bgj| ysg| hzi|