Please enable JavaScript.
Coggle requires JavaScript to display documents.
molybdenum cofactor deficiency - Coggle Diagram
molybdenum cofactor deficiency
metal-sulfur cofactors
redox reactions
iron.sulfur clusters FeS
iron-nickel sulfur cluasers FeNiS
iron-molybdenum cofactor FeMoCo
molybdenum cofactor MoCo - pterin based
tungsten cofactor
MoCo dependent enzymes in human
sulfite oxydase SO
sulfite to sulfate (oxidation)
sulfite from cystein catabolism
MTCH inner membrane
amidoxime-reducing component mARC
metabolism of N-hydroxylated compounds - prodrugs
outer MTCH membrane
xanthine oxidase XO
purine catabolism: hypoxanthine to xanthine, xanthine to uric acid
side-product: superoxyde, hydrogen-peroxide
aldehyde oxidase
heterocyclice aldehydes to carboxylic acids
side-product: superoxyde, hydrogen-peroxide
pathomechanism
abolishment of SO activity
similar diseases
isolated sulfite oxidase deficiency ISOD
ethyl-malonic encephalopathy decifiency
accumulation of sulfite
reduces disulfide bridges
in proteins - diminished activity
in S-containing metabolites
production of S-sulfonated transthyretin
accumulation of
S-sulfocystein SSC
structure is similar to glutamate
binds to NMDA receptors - neurotoxic -
SSC-mediated excitotoxicity
cytein depletion (precursor of glutathion)
contributes to ferroptosis - non-apoptotic cell death
accumulation of thiosulfates -increased sulfur flux via H2S pathway
biomarkers
accumulation of xanthine and hypoxanthine + absence of uric acid - both in MoCD and ISOD
urinary urothion - in mild cases
ref
Mayr SJ, Mendel RR, Schwarz G. Molybdenum cofactor biology, evolution and deficiency. Biochim Biophys Acta Mol Cell Res. 2021 Jan;1868(1):118883. doi: 10.1016/j.bbamcr.2020.118883. Epub 2020 Oct 2. PMID: 33017596.