Abstract
Molybdenum is an essential trace element that is crucial for the survival of animals. To date, four molybdenum-dependent enzymes have been identified in humans harboring a molybdenum cofactor in the active center. In humans, sulfite oxidase is the most important molybdenum enzyme catalyzing the terminal step in cysteine catabolism—the oxidation of cytotoxic sulfite into sulfate. A deficiency in the biosynthesis of the molybdenum cofactor results in molybdenum cofactor deficiency and the simultaneous loss of activities of all molybdenum-dependent enzymes, leading to severe neurodegeneration and death in infancy. In this review we first introduce general aspects of all four molybdenum enzymes and describe their deficiencies in humans before we focus on molybdenum cofactor deficiency and discuss different aspects of the disease, including genetic cause and classification of patients, biochemical and clinical presentation, and underlying molecular mechanism. Finally we report recent advances in the treatment of the disease and discuss possible future therapies.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: Molecular, Genetic, and Nutritional Aspects of Major and Trace Minerals
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
