Article
Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency.
Circulation. Cardiovascular genetics - 1 Dec 2010
Mayahi Lila, Mason Lydia, Bleasdale-Barr Katherine, Donald Ann, Trender-Gerhard Iris, Sweeney Mary G, Davis Mary B, Wood Nicholas, Mathias Christopher J, Watson Laura, Pellerin Denis, Heales Simon, Deanfield John E, Bhatia Kailash, Murray-Rust Judith, Hingorani Aroon D
Abstract excerpt
BACKGROUND: (6R)-5,6,7,8-Tetrahydro-l-biopterin (BH4) is a cofactor for enzymes involved in catecholamine and nitric oxide generation whose synthesis is initiated by GTP cyclohydrolase I (GTPCH-1), encoded by GCH1. In the absence of a potent, specific GTPCH-1 inhibitor, natural BH4 deficiency caused by mutations in GCH1 in the rare movement disorder, DOPA-responsive dystonia (OMIM DYT5), offers the opportunity to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.