Article
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.
Molecular genetics and metabolism - 1 Sept 2012
Haddad Marie Reine, Macri Charles J, Holmes Courtney S, Goldstein David S, Jacobson Beryl E, Centeno Jose A, Popek Edwina J, Gahl Willam A, Kaler Stephen G
Abstract excerpt
Menkes disease is a lethal X-linked recessive neurodegenerative disorder of copper transport caused by mutations in ATP7A, which encodes a copper-transporting ATPase. Early postnatal treatment with copper injections often improves clinical outcomes in affected infants. While Menkes disease newborns appear normal neurologically, analyses of fetal tissues including placenta indicate abnormal copper distribution and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.