title: Molybdenum cofactor and human disease.
abstract: Four molybdenum-dependent enzymes are known in humans, each harboring a pterin-based molybdenum cofactor (Moco) in the active site. They catalyze redox reactions using water as oxygen acceptor or donator. Moco is synthesized by a conserved biosynthetic pathway. Moco deficiency results in a severe inborn error of metabolism causing often early childhood death. Disease-causing symptoms mainly go back to the lack of sulfite oxidase (SO) activity, an enzyme in cysteine catabolism. Besides their name-giving functions, Mo-enzymes have been recognized to catalyze novel reactions, including the reduction of nitrite to nitric oxide. In this review we cover the biosynthesis of Moco, key features of Moco-enzymes and focus on their deficiency. Underlying disease mechanisms as well as treatment options will be discussed.
authors.affiliation: Institute of Biochemistry, Department of Chemistry and Center for Molecular Medicine Cologne and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Zuelpicher Str. 47, 50674 Koeln, Germany. Electronic address: gschwarz@uni-koeln.de.
authors.forename: Guenter
authors.initials: G
authors.lastname: Schwarz
mesh_terms: D003067:Coenzymes / Q000378:metabolism*; D003545:Cysteine / Q000378:metabolism; D003600:Cytosol / Q000201:enzymology; D004194:Disease; D006801:Humans; D008667:Metalloproteins / Q000378:metabolism*; D008928:Mitochondria / Q000201:enzymology; D000090006:Molybdenum Cofactors; D011621:Pteridines / Q000378:metabolism*; D013447:Sulfites / Q000378:metabolism; D013812:Therapeutics
chemical_list: D003067:Coenzymes; D003545:Cysteine; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; D013447:Sulfites; C022261:molybdopterin