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Pathway Description
Molybdenum Cofactor Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-01
Last Updated: 2022-12-02
Molybdenium cofactor deficiency (Sulfite oxidase deficiency) is caused by mutations in the genes MOCS1 and MOCS2 in the formation of molybdenum cofactor. A molybdenum-containing cofactor is essential to the function of 3 enzymes: sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. Xanthine dehydrogenase is a molybdenum-containing hydroxylase involved in the oxidative metabolism of purines. Defects in this enzyme cause accumulation of hypoxanthine,, s-s-sulfocysteine, taurine, and xanthine in the urine. Symptoms include hemorrhage, cerebral atrophy, encephalopathy, lactic acidosis, nystagmus, spastic diplegia/quadriplegia, and vomiting.
References
Molybdenum Cofactor Deficiency References
[OMIM: Entry 252150](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=252150)
[Uniprot: Q9NZB8](http://www.uniprot.org/uniprot/Q9NZB8)
[Uniprot: O96007](http://www.uniprot.org/uniprot/O96007)
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Pubmed: 3169394
Endres W, Shin YS, Gunther R, Ibel H, Duran M, Wadman SK: Report on a new patient with combined deficiencies of sulphite oxidase and xanthine dehydrogenase due to molybdenum cofactor deficiency. Eur J Pediatr. 1988 Dec;148(3):246-9.
Pubmed: 3215199
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Pubmed: 2522104
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Pubmed: 10327149
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Pubmed: 10053004
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Pubmed: 26653176
Purine Metabolism References
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Garcia-Gil M, Camici M, Allegrini S, Pesi R, Petrotto E, Tozzi MG: Emerging Role of Purine Metabolizing Enzymes in Brain Function and Tumors. Int J Mol Sci. 2018 Nov 14;19(11). pii: ijms19113598. doi: 10.3390/ijms19113598.
Pubmed: 30441833
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Pubmed: 22531138
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Pubmed: 15489334
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Pubmed: 14702039
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Pubmed: 16641997
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Pubmed: 15815621
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