ⓘ Molybdenum cofactor deficiency

                                     

ⓘ Molybdenum cofactor deficiency

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 enzyme activity of xanthine dehydrogenase/oxidase and aldehyde oxidase.

                                     
  • Molybdenum cofactor deficiency Linus Pauling Institute at Oregon State University Retrieved 2008 - 11 - 29. Sardesai VM December 1993 Molybdenum
  • with molybdenum cofactor deficiency type A. Molybdenum cofactor biosynthesis is a conserved pathway leading to the biological activation of molybdenum The
  • Molybdenum cofactor synthesis protein 2A and molybdenum cofactor synthesis protein 2B are a pair of proteins that in humans are encoded from the same MOCS2
  • congenital cofactor deficiency A congenital molybdenum cofactor deficiency disease, seen in infants, is an inability to synthesize molybdenum cofactor the
  • pyranopterin monophosphate cPMP is an experimental treatment for molybdenum cofactor deficiency type A, which was developed by Jose Santamaria - Araujo and Guenter
  • pyranopterin monophosphate synthase EC 4.1.99.18, MOCS1A, MoaA, MoaC, molybdenum cofactor biosynthesis protein 1 is an enzyme with systematic name GTP 8, 9 - lyase
  • Molybdopterins are a class of cofactors found in most molybdenum - containing and all tungsten - containing enzymes. Synonyms for molybdopterin are: MPT and
  • EC 2.8.1.12, MPT synthase is an enzyme required to synthesize molybdenum cofactor MoCo from precursor Z now known as cyclic pyranopterin monophosphate
  • by a deficiency of xanthine oxidase, which is an enzyme necessary for converting xanthine to uric acid. Type II xanthinuria and molybdenum cofactor deficiency