Menkes disease mnk, also known as menkes syndrome, is an xlinked recessive disorder caused by mutations in genes coding for the coppertransport. Menkes disease genetic and rare diseases information. Xlinked means that the gene for the condition is located on the xchromosome, one of the sex chromosomes. Treatment of md patients must also include, when needed, anticonvulsive drugs 12, linkage studies in menkes disease. Todo sobre modelo del cerebro completo herrmann 12manage. Copper histidine therapy for menkes diseases the safety and scientific validity of this study is the responsibility of the study sponsor and investigators.
Figueira p, silva pfs, roth fl, pires rf, ohlweiler l, riesgo r, rotta nt. Menkes disease genetic and rare diseases information center. Mar 30, 2020 menkes disease md is an inherited condition that impacts the way the body processes copper levels in the body. Instance of, disease, designated intractablerare diseases. Menkes disease is inherited in an xlinked recessive pattern and mainly affects boys. Menkes syndrome the disorder causes severe cerebral degeneration and arterial changes, resulting in death in infancy. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Copper histidine therapy for menkes diseases full text view. Subclass of, hair disease, metal metabolism disorder. Md primarily affects the nervous system and connective tissue with symptoms that tend to get worse over time. Several diseases which constitute a health problem. Listing a study does not mean it has been evaluated by the u. Copper histidine therapy for menkes diseases full text.