Tags: Disease.
Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdenum cofactor leads to accumulation of toxic levels of sulphite and neurological damage. Usually this leads to death within months of birth due to the lack of active sulfite oxidase. Furthermore a mutational block in molybdenum cofactor biosynthesis causes absence of enyzme activity of xanthine dehydrogenase/oxidase and aldehyde oxidase.When caused by a mutation in the MOCS1 gene it is the type A variant.